The p63 gene in EEC and other syndromes (Q24679311)

Journal of Medical Genetics

Europe PubMed Central

title

The p63 gene in EEC and other syndromes (English)

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author name string

H G Brunner

series ordinal

1

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B C J Hamel

series ordinal

2

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H Van Bokhoven

series ordinal

3

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language of work or name

English

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publication date

June 2002

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published in

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volume

39

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issue

6

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page(s)

377-81

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cites work

Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia

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Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes

7 April 2017

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p63, a p53 homolog at 3q27-29, encodes multiple products with transactivating, death-inducing, and dominant-negative activities

7 April 2017

1 reference

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Anhidrotic ectodermal dysplasia: autosomal dominant inheritance with palate and lip anomalies

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Popliteal pterygium syndrome

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Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63

7 April 2017

1 reference

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Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome

7 April 2017

1 reference

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Ectodermal dysplasia, Rapp-Hodgkin type in a mother and severe ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC) in her child

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The syndrome of ankyloblepharon, ectodermal defects and cleft lip and palate: an autosomal dominant condition

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Ectodermal dysplasia, mental retardation, cleft lip/palate and other anomalies in three sibs

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Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27.

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Limb mammary syndrome: a new genetic disorder with mammary hypoplasia, ectrodactyly, and other Hand/Foot anomalies maps to human chromosome 3q27

28 September 2017

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ADULT-syndrome: an autosomal-dominant disorder with pigment anomalies, ectrodactyly, nail dysplasia, and hypodontia

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Split hand/split foot deformity and LADD syndrome in a family: overlap between the EEC and LADD syndromes

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Rapp-Hodgkin syndrome and AEC syndrome: are they the same entity?

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The type II collagenopathies: a spectrum of chondrodysplasias

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p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation.

28 September 2017

1 reference

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TP63 gene mutation in ADULT syndrome

30 May 2018

1 reference

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28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735150

Gain-of-function mutation in ADULT syndrome reveals the presence of a second transactivation domain in p63

28 November 2018

1 reference

12 December 2020

Alveolar synechia-ankyloblepharon-ectodermal defects likely CHANDS

1 reference

12 December 2020

The lacrimo-auriculo-dento-digital syndrome

1 reference

12 December 2020

The ECP syndrome, another autosomal dominant cause of monodactylous ectrodactyly

1 reference

12 December 2020

ADULT syndrome allelic to limb mammary syndrome (LMS)?

1 reference

12 December 2020

Association of Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip-Palate

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12 December 2020

Identifiers

DOI

10.1136/JMG.39.6.377

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3173588

3173588

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