A Homozygous Frameshift Mutation in theHOXC13Gene Underlies Pure Hair and Nail Ectodermal Dysplasia in a Syrian Family-Reference-Cited by-同舟云学术

A Homozygous Frameshift Mutation in theHOXC13Gene Underlies Pure Hair and Nail Ectodermal Dysplasia in a Syrian Family

Published:2013-02 Issue: Volume: Page:n/a-n/a
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Farooq Muhammad¹,Kurban Mazen,Fujimoto Atsushi,Fujikawa Hiroki,Abbas Ossama²,Nemer Georges³,Saliba Jessica³,Sleiman Rima²,Tofaili Mona³,Kibbi Abdul-Ghani²,Ito Masaaki⁴,Shimomura Yutaka¹

Affiliation:

1. Laboratory of Genetic Skin Diseases; Niigata University Graduate School of Medical and Dental Sciences; Niigata; Japan

2. Department of Dermatology; American University of Beirut Medical Center; Beirut; Lebanon

3. Department of Biochemistry and Molecular Genetics; American University of Beirut Medical Center; Beirut; Lebanon

4. Division of Dermatology; Niigata University Graduate School of Medical and Dental Sciences; Niigata; Japan

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22271/fullpdf

Reference22 articles.

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3. Pili torti and onychodysplasia. Report of a previously undescribed hidrotic ectodermal dysplasia;Calzavara-Pinton;Dermatologica,1991

4. Temporal colinearity and the phylotypic progression: a basis for the stability of a vertebrate Bauplan and the evolution of morphologies through heterochrony;Duboule;Dev Suppl,1994

5. Hoxc13 mutant mice lack external hair;Godwin;Genes Dev,1998

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