(Q52551652)

3 May 2018

title

The Rapp-Hodgkin syndrome results from mutations of the TP63 gene. (English)

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3 May 2018

main subject

Rapp-Hodgkin syndrome

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2

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3 May 2018

author name string

Gaëlle Bougeard

1

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3 May 2018

Laurence Faivre

3

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3 May 2018

Nasrin Sarafan-Vasseur

4

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3 May 2018

Thierry Frébourg

5

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3 May 2018

publication date

1 September 2003

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3 May 2018

European Journal of Human Genetics

published in

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3 May 2018

volume

11

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3 May 2018

issue

9

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3 May 2018

page(s)

700-704

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3 May 2018

https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201004

exact match

0 references

cites work

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

21 January 2018

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

21 January 2018

1 reference

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

21 January 2018

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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.

21 January 2018

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TP63 gene mutation in ADULT syndrome

21 January 2018

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

21 January 2018

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

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EEC (Ectrodactyly, Ectodermal dysplasia, Clefting) syndrome: heterozygous mutation in the p63 gene (R279H) and DNA-based prenatal diagnosis.

21 January 2018

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Distinctive hair changes (pili torti) in Rapp-Hodgkin ectodermal dysplasia syndrome

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7 January 2021

Rapp-Hodgkin ectodermal dysplasia

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Rapp-Hodgkin syndrome: report of a Brazilian family

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Rapp-Hodgkin hypohidrotic ectodermal dysplasia syndrome

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7 January 2021

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

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7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5201004

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3 May 2018

PubMed ID

12939657

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3 May 2018