Rothmund-Thomson syndrome (Q21202881)

Dimensions

18 August 2022

Gaia Roversi

series ordinal

2

author given names

Gaia

author last names

Roversi

1 reference

Dimensions

18 August 2022

Ludovica Volpi

series ordinal

3

author given names

Ludovica

author last names

Volpi

1 reference

Dimensions

Orphanet Journal of Rare Diseases

18 August 2022

language of work or name

English

0 references

publication date

29 January 2010

6 references

12 March 2019

13 March 2019

22 April 2019

17 June 2019

29 January 2021

6 February 2021

6 references

12 March 2019

13 March 2019

22 April 2019

17 June 2019

29 January 2021

6 February 2021

5

0 references

issue

1

0 references

page(s)

2

0 references

copyright license

Creative Commons Attribution 2.0 Generic

6 references

12 March 2019

13 March 2019

22 April 2019

17 June 2019

29 January 2021

on focus list of Wikimedia project

6 February 2021

copyright status

copyrighted

0 references

ScienceSource

0 references

cites work

Dual DNA unwinding activities of the Rothmund-Thomson syndrome protein, RECQ4

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2826297

Intron-size constraint as a mutational mechanism in Rothmund-Thomson syndrome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2826297

Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2826297

The role of poly(ADP-ribose) in the DNA damage signaling network

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2826297

Recql4 haploinsufficiency in mice leads to defects in osteoblast progenitors: Implications for low bone mass phenotype

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2826297

Defective sister-chromatid cohesion, aneuploidy and cancer predisposition in a mouse model of type II Rothmund-Thomson syndrome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2826297

RECQL4, mutated in the Rothmund-Thomson and RAPADILINO syndromes, interacts with ubiquitin ligases UBR1 and UBR2 of the N-end rule pathway

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2826297

Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2826297

RAPADILINO syndrome with radial and patellar aplasia/hypoplasia as main manifestations

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2826297

PARP-1 and Ku compete for repair of DNA double strand breaks by distinct NHEJ pathways

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2826297

Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2826297

The mutation spectrum in RECQL4 diseases

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2826297

RecQ4 facilitates UV light-induced DNA damage repair through interaction with nucleotide excision repair factor xeroderma pigmentosum group A (XPA)

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2826297

Sensitivity of RECQL4-deficient fibroblasts from Rothmund-Thomson syndrome patients to genotoxic agents

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2826297

Homologous recombination and maintenance of genome integrity: cancer and aging through the prism of human RecQ helicases

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2826297

Multiple cutaneous neoplasms in a patient with Rothmund-Thomson syndrome: case report and published work review

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2826297

RecQ helicases: guardian angels of the DNA replication fork

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2826297

The molecular role of the Rothmund-Thomson-, RAPADILINO- and Baller-Gerold-gene product, RECQL4: recent progress

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2826297

Clinicopathologic features of osteosarcoma in patients with Rothmund-Thomson syndrome

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2826297

Synchronous multifocal osteosarcoma: case report and literature review

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2826297

Short root anomaly associated with Rothmund-Thomson syndrome

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2826297

Mechanisms of RecQ helicases in pathways of DNA metabolism and maintenance of genomic stability

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2826297

An unusual patient with Rothmund-Thomson syndrome, porokeratosis and bilateral iris dysgenesis

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2826297

Rothmund-Thomson syndrome and RECQL4 defect: splitting and lumping

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2826297

Biochemical characterization of the RECQ4 protein, mutated in Rothmund-Thomson syndrome

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2826297

Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2826297

Initiation of DNA replication requires the RECQL4 protein mutated in Rothmund-Thomson syndrome

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2826297

A patient with Rothmund-Thomson syndrome and all features of RAPADILINO.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2826297

Case report of synchronous multicentric osteosarcoma and review of the literature: the importance of autopsy for diagnosis.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2826297

Tumor suppressor p53 represses transcription of RECQ4 helicase

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2826297

Mutation analysis of the RECQL4 gene in sporadic osteosarcomas

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2826297

Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2826297

Identification of two novel RECQL4exonic SNPs and genomic characterization of the IVS12 minisatellite

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2826297

Ocular manifestations in the inherited DNA repair disorders.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2826297

Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2826297

Analysis of genomic instability using multiple assays in a patient with Rothmund-Thomson syndrome

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2826297

Rothmund-thomson syndrome responsible gene, RECQL4: genomic structure and products

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2826297

Aplastic anemia in a patient with Rothmund-Thomson syndrome

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2826297

Rapadilino syndrome--a non-Finnish case

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2826297

Rothmund-Thomson syndrome: two case reports show heterogeneous cutaneous abnormalities, an association with genetically programmed ageing changes, and increased chromosomal radiosensitivity

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2826297

Instability of lymphocyte chromosomes in a girl with Rothmund-Thomson syndrome

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2826297

Rothmund-Thomson syndrome associated with trisomy 8 mosaicism

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2826297

Rothmund-Thomson syndrome: a report of two patients and a review of the literature

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2826297

Treatment of the poikilodermatous component of the Rothmund-Thomson syndrome with the flashlamp-pumped pulsed dye laser: a case report

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2826297

Rothmund-Thomson syndrome: review of the world literature

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2826297

Nuclear import and retention domains in the amino terminus of RECQL4.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2826297

The Rothmund-Thomson gene product RECQL4 localizes to the nucleolus in response to oxidative stress

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2826297

Osteogenic sarcoma in the Rothmund-Thomson syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2826297

Rothmund-Thomson syndrome.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2826297

The N-terminal noncatalytic region of Xenopus RecQ4 is required for chromatin binding of DNA polymerase alpha in the initiation of DNA replication

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2826297

Osteosarcomatosis with Rothmund-Thomson syndrome.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2826297

Early blistering, poikiloderma, hypohidrosis, alopecia and exocrine pancreatic hypofunction: a peculiar variant of Rothmund-Thomson syndrome?

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2826297

Late-onset Rothmund-Thomson syndrome

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2826297

Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2826297

Rothmund-Thomson syndrome: a case report

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2826297

Enhanced radiosensitivity and defective DNA repair in cultured fibroblasts derived from Rothmund Thomson syndrome patients

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2826297

Clonal lines of aneuploid cells in Rothmund-Thomson syndrome

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2826297

The Baller-Gerold syndrome

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2826297

A patient with Baller-Gerold syndrome and midline NK/T lymphoma

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2826297

Identification of new RECQL4 mutations in Caucasian Rothmund-Thomson patients and analysis of sensitivity to a wide range of genotoxic agents

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2826297

Bronchiectasis in two pediatric patients with Rothmund-Thomson syndrome.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2826297

A positive involvement of RecQL4 in UV-induced S-phase arrest.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2826297

RECQL4-deficient cells are hypersensitive to oxidative stress/damage: Insights for osteosarcoma prevalence and heterogeneity in Rothmund-Thomson syndrome.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2826297

Rothmund-Thomson syndrome, Klippel-Feil syndrome, and osteosarcoma.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2826297

Growth retardation and skin abnormalities of the Recql4-deficient mouse.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2826297

RNA processing defects of the helicase gene RECQL4 in a compound heterozygous Rothmund-Thomson patient.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2826297

Absence of RECQL4 mutations in poikiloderma with neutropenia in Navajo and non-Navajo patients.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2826297

Rothmund-thomson syndrome in three siblings and development of cutaneous squamous cell carcinoma.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2826297

Rothmund-Thomson syndrome (Thomson-type) and myelodysplasia.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2826297

Degradation of a cohesin subunit by the N-end rule pathway is essential for chromosome stability

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2826297

Overlap between Baller-Gerold and Rothmund-Thomson syndrome

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2826297

The dentition in Rothmund's syndrome.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2826297

Rothmund-Thomson syndrome in siblings: evidence for acquired in vivo mosaicism

29 November 2018

1 reference

12 December 2020

Clericuzio type poikiloderma with neutropenia is distinct from Rothmund-Thomson syndrome

1 reference

12 December 2020

Atypical Rothmund-Thomson syndrome in a patient with compound Heterozygous Mutations in RECQL4 Gene and phenotypic features in RECQL4 syndromes

1 reference

12 December 2020

A case of Rothmund-Thomson syndrome with reduced DNA repair capacity

1 reference

12 December 2020

Rothmund-Thomson syndrome with myelodysplasia

1 reference

12 December 2020

Amelanotic melanoma in a patient with Rothmund-Thomson syndrome

1 reference

12 December 2020

Rothmund's syndrome; Thomson's syndrome; congenital poikiloderma with or without juvenile cataracts

1 reference

12 December 2020

Possible involvement of RecQL4 in the repair of double-strand DNA breaks in Xenopus egg extracts

1 reference

12 December 2020

Radial aplasia, poikiloderma and auto-immune enterocolitis--new syndrome or severe form of Rothmund-Thomson syndrome?

1 reference

12 December 2020

Excision repair defect in Rothmund Thomson syndrome

1 reference

12 December 2020

[Preparation of the gene targeted knockout mice for human premature aging diseases, Werner syndrome, and Rothmund-Thomson syndrome caused by the mutation of DNA helicases]

1 reference

12 December 2020

Haematological disease in siblings with Rothmund-Thomson syndrome

1 reference

12 December 2020

Variable presentation of Rothmund-Thomson syndrome

1 reference

12 December 2020

Chromosomal instability in fibroblasts and mesenchymal tumors from 2 sibs with Rothmund-Thomson syndrome

1 reference

12 December 2020

A female patient with the Rothmund-Thomson syndrome associated with anhidrosis and severe infections of the respiratory tract

1 reference

12 December 2020

Case report 760. Osteoblastic osteosarcoma (grade 4) with Rothmund-Thomson syndrome

1 reference

12 December 2020

An unusual mutation in RECQ4 gene leading to Rothmund–Thomson syndrome

1 reference

12 December 2020

The human Rothmund-Thomson syndrome gene product, RECQL4, localizes to distinct nuclear foci that coincide with proteins involved in the maintenance of genome stability

1 reference

12 December 2020

[Rothmund-Thomson syndrome with glaucoma. An endocrinologic study]

1 reference

12 December 2020

Growth hormone deficiency in the Rothmund-Thomson syndrome

1 reference

12 December 2020

Rothmund-Thomson syndrome in fraternal twins

1 reference

12 December 2020

Rothmund-Thomson syndrome due to RECQ4 helicase mutations: report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome

1 reference

12 December 2020

Osteogenic sarcoma and Rothmund Thomson syndrome

1 reference

12 December 2020

Malignant eccrine poroma in a patient with Rothmund-Thomson syndrome

1 reference

12 December 2020

Successful umbilical cord blood stem cell transplantation in a patient with Rothmund-Thomson syndrome and combined immunodeficiency

1 reference

12 December 2020

Multicentric osteosarcoma, Rothmund-Thomson syndrome, and secondary nasopharyngeal non-Hodgkin's lymphoma: a case report and review of the literature

1 reference

12 December 2020

DNA Damage and Repair in Light-Sensitive Human Skin Disease

1 reference

12 December 2020

Rothmund-Thomson syndrome associated with annular pancreas and duodenal stenosis: a case report

1 reference

12 December 2020

Radiographic abnormalities in Rothmund-Thomson syndrome and genotype-phenotype correlation with RECQL4 mutation status

1 reference

12 December 2020

Myelodysplastic syndrome in a child with Rothmund-Thomson syndrome: a case report

1 reference

12 December 2020

Ueber Cataracten in Verbindung mit einer eigenthümlichen Hautdegeneration

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1750-1172-5-2

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1186/1750-1172-5-2

1 reference

1400010

0 references

1400010

1 reference

1 reference

1 reference