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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Detalhes bibliográficos
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
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2013
Assuntos:
Research Article
Acesso em linha: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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