Article
A Family with Craniofrontonasal Syndrome: The First Report of Familial Cases of Craniofrontonasal Syndrome with Bilateral Cleft Lip and Palate.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association - 1 Aug 2018
Inoue Yoshikazu, Sakamoto Yoshiaki, Sugimoto Masanori, Inagaki Hidehito, Boda Hiroko, Miyata Masafumi, Kato Hideteru, Kurahashi Hiroki, Okumoto Takayuki
Abstract excerpt
Craniofrontonasal syndrome (CFNS) is a very rare genetic disorder, the common physical malformations of which include coronal synostosis, widely spaced eyes, clefting of the nasal tip, and various skeletal anomalies. Mutations of EFNB1, which encodes a member of the ephrin family of transmembrane ligands for Eph receptor tyrosine kinases, is the cause of CFNS. Although familial CFNS cases have been reported, no...
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