Common Mutations in Arg304 of the p63 Gene in Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome: Lack of Genotype–Phenotype Correlation and Implications for Mutation Detection Strategies-Reference-Cited by-同舟云学术

Common Mutations in Arg304 of the p63 Gene in Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome: Lack of Genotype–Phenotype Correlation and Implications for Mutation Detection Strategies

Published:2002-11 Issue:5 Volume:119 Page:1202-1203
ISSN:0022-202X
Container-title:Journal of Investigative Dermatology
language:en
Short-container-title:Journal of Investigative Dermatology

Author:

Hamada Takahiro,Chan Ien,McGrath John A.,Willoughby Colin E.,Goudie David R.

Publisher

Elsevier BV

Subject

Cell Biology,Dermatology,Molecular Biology,Biochemistry

Reference9 articles.

1. Twenty-four cases of the EEC syndrome: clinical presentation and management;Buss;J Med Genet,1995

2. Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome;Celli;Cell,1999

3. p53 mutation database. a relational database to compile and analyze p53 mutations in human tumors and cell lines;Hernandez-Boussard;Hum Mutat,1999

4. Hay–Wells syndrome is caused by mis-sense mutations in the SAM domain of p63;McGrath;Hum Mol Genet,2001

5. The EEC syndrome a literature study;Roelfsema;Clin Dysmorphol,1996

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