Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans

Ichthyoses are a clinically and genetically heterogeneous group of genodermatoses associated with abnormal scaling of the skin over the whole body. Mutations in nine genes are known to cause non-syndromic forms of autosomal-recessive congenital ichthyosis (ARCI). However, not all genetic causes for...

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Udgivet i:Am J Hum Genet
Main Authors: Heinz, Lisa, Kim, Gwang-Jin, Marrakchi, Slaheddine, Christiansen, Julie, Turki, Hamida, Rauschendorf, Marc-Alexander, Lathrop, Mark, Hausser, Ingrid, Zimmer, Andreas D., Fischer, Judith
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2017
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5473727/
https://ncbi.nlm.nih.gov/pubmed/28575648
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2017.05.007
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