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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Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: Public Library of Science 2013
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Research Article
Accesso online: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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