Townes-Brocks syndrome (Q33537397)

27 July 2017

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title

Townes-Brocks syndrome. (English)

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27 July 2017

Powell CM

1

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27 July 2017

Michaelis RC

series ordinal

2

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27 July 2017

language of work or name

English

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publication date

1 February 1999

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Journal of Medical Genetics

27 July 2017

published in

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27 July 2017

volume

36

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27 July 2017

issue

2

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27 July 2017

page(s)

89-93

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Townes-Brocks and Pendred syndrome in the same patient.

27 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734298

Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734298

Isolation, characterization, and organ-specific expression of two novel human zinc finger genes related to the Drosophila gene spalt

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734298

The need for more accurate and timely diagnosis in Fanconi anemia: a report from the International Fanconi Anemia Registry.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734298

Description of a patient with difficult nosological classification: Goldenhar syndrome or Townes-Brocks syndrome?

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734298

Spectrum of anomalies in Fanconi anaemia

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734298

Hereditary syndrome of imperforate anus with hand, foot, and ear anomalies

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734298

A new polydactyly/imperforate-anus/vertebral-anomalies syndrome?

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734298

Townes syndrome. A distinct multiple malformation syndrome resembling VACTERL association.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734298

A new family with the Townes-Brocks syndrome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734298

VACTERL with hydrocephalus: further delineation of the syndrome(s)

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734298

Townes-Brocks syndrome. Report of a case and review of the literature

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734298

The Townes-Brocks syndrome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734298

Townes-Brocks syndrome in two mentally retarded youngsters.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734298

Townes-Brocks syndrome. Case report and review of the literature

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734298

Familial anal abnormality

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734298

Autosomal dominant transmission of a syndrome of anal, ear, renal, and radial congenital malformations

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734298

Townes-Brocks syndrome associated with mental retardation.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734298

Townes-Brocks syndrome in an infant with translocation t (5;16).

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734298

Hearing loss in Townes-Brocks syndrome.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734298

Syndrome of imperforate anus, abnormalities of hands and feet, satyr ears, and sensorineural deafness.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734298

The Holt-Oram syndrome with previously undescribed associated anomalies

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734298

Limb anomalies in DiGeorge and CHARGE syndromes

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734298

Upper limb malformations in DiGeorge syndrome

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734298

Familial occurrence of hemifacial microsomia with radial limb defects

31 October 2018

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12 December 2020

Phenotypic variability in Townes-Brocks syndrome

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12 December 2020

Townes-Brocks syndrome

1 reference

12 December 2020

VACTERL with hydrocephalus: one end of the Fanconi anemia spectrum of anomalies?

1 reference

12 December 2020

VACTERL with hydrocephalus: spontaneous chromosome breakage and rearrangement in a family showing apparent sex-linked recessive inheritance

1 reference

12 December 2020

PHAVER syndrome: an autosomal recessive syndrome of limb pterygia, congenital heart anomalies, vertebral defects, ear anomalies, and radial defects

1 reference

12 December 2020

Clinical heterogeneity of Townes-Brocks syndrome

1 reference

12 December 2020

Three-generation family with resemblance to Townes-Brocks syndrome and Goldenhar/oculoauriculovertebral spectrum

1 reference

12 December 2020

[The Townes-Brocks syndrome]

1 reference

12 December 2020

Townes-Brocks syndrome presenting as end stage renal failure

1 reference

12 December 2020

Identifiers

PMC publication ID

1734298

1 reference

27 July 2017

1 reference