Article
A recurrent de novo FAM111A mutation causes Kenny-Caffey syndrome type 2.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Apr 2014
Isojima Tsuyoshi, Doi Koichiro, Mitsui Jun, Oda Yoichiro, Tokuhiro Etsuro, Yasoda Akihiro, Yorifuji Tohru, Horikawa Reiko, Yoshimura Jun, Ishiura Hiroyuki, Morishita Shinichi, Tsuji Shoji, Kitanaka Sachiko
Abstract excerpt
Kenny-Caffey syndrome (KCS) is a rare dysmorphologic syndrome characterized by proportionate short stature, cortical thickening and medullary stenosis of tubular bones, delayed closure of anterior fontanelle, eye abnormalities, and hypoparathyroidism. The autosomal dominant form of KCS (KCS type 2 [KCS2]) is distinguished from the autosomal recessive form of KCS (KCS type 1 [KCS1]), which is caused by mutations...
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