Somatic Mosaicism for a “Lethal”GJB2Mutation Results in a Patterned Form of Spiny Hyperkeratosis without Eccrine Involvement-Reference-Cited by-同舟云学术

Somatic Mosaicism for a “Lethal”GJB2Mutation Results in a Patterned Form of Spiny Hyperkeratosis without Eccrine Involvement

Published:2016-04-18 Issue:3 Volume:33 Page:322-326
ISSN:0736-8046
Container-title:Pediatric Dermatology
language:en
Short-container-title:Pediatr Dermatol

Author:

Eskin-Schwartz Marina¹²,Metzger Yoav¹,Peled Alon¹²,Weissglas-Volkov Daphna³,Malchin Natalia¹,Gat Andrea⁴,Vodo Dan¹²,Mevorah Baruch¹,Shomron Noam³,Sprecher Eli¹²,Sarig Ofer¹

Affiliation:

1. Department of Dermatology; Tel Aviv Sourasky Medical Center; Tel Aviv Israel

2. Department of Human Molecular Genetics and Biochemistry; Sackler Faculty of Medicine; Tel Aviv University; Tel Aviv Israel

3. Department of Cell and Developmental Biology; Sackler Faculty of Medicine; Tel Aviv University; Tel Aviv Israel

4. Department of Pathology; Tel Aviv Sourasky Medical Center; Tel Aviv Israel

Funder

Ram family

Publisher

Wiley

Subject

Dermatology,Pediatrics, Perinatology, and Child Health

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/pde.12848/fullpdf

Reference25 articles.

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4. KID syndrome associated with features of ichthyosis hystrix;Nousari;Pediatr Dermatol,2000

5. Genodermatoses caused by genetic mosaicism;Vreeburg;Eur J Pediatr,2012

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