Mutations in CERS3 Cause Autosomal Recessive Congenital Ichthyosis in Humans

Autosomal recessive congenital ichthyosis (ARCI) is a rare genetic disorder of the skin characterized by abnormal desquamation over the whole body. In this study we report four patients from three consanguineous Tunisian families with skin, eye, heart, and skeletal anomalies, who harbor a homozygous...

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Main Authors: Radner, Franz P. W., Marrakchi, Slaheddine, Kirchmeier, Peter, Kim, Gwang-Jin, Ribierre, Florence, Kamoun, Bourane, Abid, Leila, Leipoldt, Michael, Turki, Hamida, Schempp, Werner, Heilig, Roland, Lathrop, Mark, Fischer, Judith
格式: Artigo
語言:Inglês
出版: Public Library of Science 2013
主題:
Research Article
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC3675029/
https://ncbi.nlm.nih.gov/pubmed/23754960
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1003536
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