Article
TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.
PloS one - 1 Jan 2014
Ogata Tsutomu, Niihori Tetsuya, Tanaka Noriko, Kawai Masahiko, Nagashima Takeshi, Funayama Ryo, Nakayama Keiko, Nakashima Shinichi, Kato Fumiko, Fukami Maki, Aoki Yoko, Matsubara Yoichi
Abstract excerpt
BACKGROUND: Although TBX1 mutations have been identified in patients with 22q11.2 deletion syndrome (22q11.2DS)-like phenotypes including characteristic craniofacial features, cardiovascular anomalies, hypoparathyroidism, and thymic hypoplasia, the frequency of TBX1 mutations remains rare in deletion-negative patients. Thus, it would be reasonable to perform a comprehensive genetic analysis in deletion-negative...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.