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

BACKGROUND: Infant death in KID syndrome is recognized; its association with specific genotypes and pathophysiology is inadequately understood. OBJECTIVE: To discover characteristics that account for poor outcomes in lethal KID syndrome. METHODS: We collected four new cases and nine previously repor...

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Detalhes bibliográficos
Publicado no:J Am Acad Dermatol
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: 2018
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6372339/
https://ncbi.nlm.nih.gov/pubmed/30287322
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jaad.2018.09.042
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