Deletion of Porcn in Mice Leads to Multiple Developmental Defects and Models Human Focal Dermal Hypoplasia (Goltz Syndrome)

BACKGROUND: Focal Dermal Hypoplasia (FDH) is a genetic disorder characterized by developmental defects in skin, skeleton and ectodermal appendages. FDH is caused by dominant loss-of-function mutations in X-linked PORCN. PORCN orthologues in Drosophila and mice encode endoplasmic reticulum proteins r...

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Main Authors: Liu, Wei, Shaver, Timothy M., Balasa, Alfred, Ljungberg, M. Cecilia, Wang, Xiaoling, Wen, Shu, Nguyen, Hoang, Van den Veyver, Ignatia B.
Formato: Artigo
Idioma:Inglês
Publicado: Public Library of Science 2012
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Research Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC3295752/
https://ncbi.nlm.nih.gov/pubmed/22412863
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0032331
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