Interstitial 287 kb deletion of 4p16.3 including FGFRL1 gene associated with language impairment and overgrowth. (Q41883386)

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25 February 2020

case report

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title

Interstitial 287 kb deletion of 4p16.3 including FGFRL1 gene associated with language impairment and overgrowth (English)

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25 February 2020

1

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José Ferrão

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25 February 2020

Isabel M. Carreira

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author name string

Fabiana Ramos

2

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25 February 2020

Luís M Pires

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Alexandra Mascarenhas

5

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Joana B Melo

6

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publication date

9 December 2014

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25 February 2020

published in

Molecular Cytogenetics

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volume

7

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issue

1

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page(s)

87

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Creative Commons Attribution 4.0 International

25 February 2020

copyright license

start time

1 December 2014

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April 2022 Public Data File from Crossref

copyright status

copyrighted

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exact match

https://scigraph.springernature.com/pub.10.1186/s13039-014-0087-2

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cites work

Deletions involving genes WHSC1 and LETM1 may be necessary, but are not sufficient to cause Wolf-Hirschhorn Syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4265458

Fine-grained facial phenotype-genotype analysis in Wolf-Hirschhorn syndrome

5 June 2018

1 reference

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Multiple congenital malformations of Wolf-Hirschhorn syndrome are recapitulated in Fgfrl1 null mice

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4265458

On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: genotype-phenotype correlation analysis of 80 patients and literature review.

5 June 2018

1 reference

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Wolf-Hirschhorn syndrome facial dysmorphic features in a patient with a terminal 4p16.3 deletion telomeric to the WHSCR and WHSCR 2 regions

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4265458

Genotype-phenotype correlation in 21 patients with Wolf-Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH).

5 June 2018

1 reference

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Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities

5 June 2018

1 reference

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Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4265458

First known microdeletion within the Wolf-Hirschhorn syndrome critical region refines genotype-phenotype correlation

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4265458

Insertional translocation leading to a 4q13 duplication including the EPHA5 gene in two siblings with attention-deficit hyperactivity disorder.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4265458

109 kb deletion of chromosome 4p16.3 in a patient with mild phenotype of Wolf-Hirschhorn syndrome.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4265458

Mother to son amplification of a small subtelomeric deletion: a new mechanism of familial recurrence in microdeletion syndromes.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4265458

Expression of FGFRL1, a novel fibroblast growth factor receptor, during embryonic development.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4265458

Mild Wolf-Hirschhorn syndrome: micro-array CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4265458

Two unique patients with novel microdeletions in 4p16.3 that exclude the WHS critical regions: implications for critical region designation

18 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25506393

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/S13039-014-0087-2

1 reference

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25 February 2020

1 reference

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25 February 2020

PubMed publication ID

25506393

1 reference

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