Article
A novel phenotypic pattern in X-linked inheritance: craniofrontonasal syndrome maps to Xp22.
Human molecular genetics - 1 Oct 1997
Feldman G J, Ward D E, Lajeunie-Renier E, Saavedra D, Robin N H, Proud V, Robb L J, Der Kaloustian V, Carey J C, Cohen M M, Cormier V, Munnich A, Zackai E H, Wilkie A O, Price R A, Muenke M
Abstract excerpt
Craniofrontonasal syndrome (CFNS, OMIM 304110) is a distinctive genetic disorder whose main clinical manifestations include coronal synostosis, widely spaced eyes, clefting of the nasal tip and various skeletal anomalies. CFNS originally was thought to be transmitted as an autosomal dominant trait, but recent studies suggest that it is X-linked dominant, whereby all daughters of males are affected, whereas none...
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