More than keratitis, ichthyosis, and deafness: Multisystem effects of lethal GJB2 mutations-Reference-Cited by-同舟云学术

More than keratitis, ichthyosis, and deafness: Multisystem effects of lethal GJB2 mutations

Published:2019-03 Issue:3 Volume:80 Page:617-625
ISSN:0190-9622
Container-title:Journal of the American Academy of Dermatology
language:en
Short-container-title:Journal of the American Academy of Dermatology

Author:

Lilly Evelyn,Bunick Christopher G.,Maley Alexander M.,Zhang Shali,Spraker Mary K.,Theos Amy J.,Vivar Karina L.,Seminario-Vidal Lucia,Bennett Adam E.,Sidbury Robert,Ogawa Yasushi,Akiyama Masashi,Binder Barbara,Hadj-Rabia Smail,Morotti Raffaella A.,Glusac Earl J.,Choate Keith A.,Richard Gabriele,Milstone Leonard M.

Funder

Dermatology Foundation

National Institutes of Health

National Institute of Arthritis and Musculoskeletal and Skin Diseases

Publisher

Elsevier BV

Subject

Dermatology

Reference23 articles.

1. Fatal septicemia in an infant with keratitis, ichthyosis, and deafness (KID) syndrome;Gilliam;Pediatr Dermatol,2002

2. A novel mutation in the connexin 26 gene (GJB2) in a child with clinical and histological features of keratitis-ichthyosis-deafness (KID) syndrome;Koppelhus;Clin Exp Dermatol,2011

3. Revertant mutation releases confined lethal mutation, opening Pandora’s box: a novel genetic pathogenesis;Ogawa;PLoS Genet,2014