A Missense Mutation in CASK Causes FG Syndrome in an Italian Family

First described in 1974, FG syndrome (FGS) is an X-linked multiple congenital anomaly/mental retardation (MCA/MR) disorder, characterized by high clinical variability and genetic heterogeneity. Five loci (FGS1-5) have so far been linked to this phenotype on the X chromosome, but only one gene, MED12...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Piluso, Giulio, D'Amico, Francesca, Saccone, Valentina, Bismuto, Ettore, Rotundo, Ida Luisa, Di Domenico, Marina, Aurino, Stefania, Schwartz, Charles E., Neri, Giovanni, Nigro, Vincenzo
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Elsevier 2009
Pynciau:
Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC2668001/
https://ncbi.nlm.nih.gov/pubmed/19200522
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2008.12.018
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