A recurrent de novo FAM111A mutation causes kenny–caffey syndrome type 2

ABSTRACT 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...

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Veröffentlicht in:	Journal of bone and mineral research 2014-04, Vol.29 (4), p.992-998
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Base Sequence Child DNA Primers Dwarfism - genetics Exome FAM111A Female Humans Hyperostosis, Cortical, Congenital - genetics Hypocalcemia - genetics HYPOMAGNESEMIA KENNY–CAFFEY SYNDROME Male Mutation PARATHYROID‐RELATED DISORDERS Pedigree Polymerase Chain Reaction Receptors, Virus - genetics RNA, Messenger - genetics Young Adult
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