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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3675029/
https://www.ncbi.nlm.nih.gov/pubmed/23754960
http://dx.doi.org/10.1371/journal.pgen.1003536

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3675029/
https://www.ncbi.nlm.nih.gov/pubmed/23754960
http://dx.doi.org/10.1371/journal.pgen.1003536

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