Article
TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia.
American journal of medical genetics. Part A - 1 Feb 2014
Alanay Yasemin, Ergüner Bekir, Utine Eda, Haçariz Orçun, Kiper Pelin Ozlem Simsek, Taşkıran Ekim Zihni, Perçin Ferda, Uz Elif, Sağiroğlu Mahmut Şamil, Yuksel Bayram, Boduroglu Koray, Akarsu Nurten Ayse
Abstract excerpt
Cerebrofaciothoracic dysplasia (CFT) (OMIM #213980) is a multiple congenital anomaly and intellectual disability syndrome involving the cranium, face, and thorax. The characteristic features are cranial involvement with macrocrania at birth, brachycephaly, various CT/MRI findings including hypoplasia of corpus callosum, enlargement of septum pellicidum, and diffuse hypodensity of the grey matter, flat face,...
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