Article
FG syndrome, an X-linked multiple congenital anomaly syndrome: the clinical phenotype and an algorithm for diagnostic testing.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Nov 2009
Clark Robin Dawn, Graham John M, Friez Michael J, Hoo Joe J, Jones Kenneth Lyons, McKeown Carole, Moeschler John B, Raymond F Lucy, Rogers R Curtis, Schwartz Charles E, Battaglia Agatino, Lyons Michael J, Stevenson Roger E
Abstract excerpt
FG syndrome is a rare X-linked multiple congenital anomaly-cognitive impairment disorder caused by the p.R961W mutation in the MED12 gene. We identified all known patients with this mutation to delineate their clinical phenotype and devise a clinical algorithm to facilitate molecular diagnosis. W...
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