A homozygous missense variant in type I keratinKRT25causes autosomal recessive woolly hair-Reference-Cited by-同舟云学术

A homozygous missense variant in type I keratinKRT25causes autosomal recessive woolly hair

Published:2015-07-09 Issue:10 Volume:52 Page:676-680
ISSN:0022-2593
Container-title:Journal of Medical Genetics
language:en
Short-container-title:J Med Genet

Author:

Ansar Muhammad,Raza Syed Irfan,Lee Kwanghyuk,Irfanullah ,Shahi Shamim,Acharya Anushree,Dai Hang,Smith Joshua D,Shendure Jay,Bamshad Michael J,Nickerson Deborah A,Santos-Cortez Regie Lyn P,Ahmad Wasim,Leal Suzanne M

Publisher

BMJ

Subject

Genetics(clinical),Genetics

Reference20 articles.

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2. Controls of hair follicle cycling;Stenn;Physiol Rev,2001

3. K25 (K25irs1), K26 (K25irs2), K27 (K25irs3), and K28 (K25irs4) represent the type I inner root sheath keratins of the human hair follicle;Langbein;J Invest Dermatol,2006

4. Genetics of structural hair disorders;Harel;J Invest Dermatol,2012

5. Autosomal recessive woolly hair with hypotrichosis caused by a novel homozygous mutation in the P2RY5 gene;Shimomura;Exp Dermatol,2009

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