Hiroko Boda Hidetoshi Uchida Nobue Takaiso Yuya Ouchi Naoko Fujita Asami Kuno Tadayoshi Hata Arisa Nagatani Yuri Funamoto Masafumi Miyata Tetsushi Yoshikawa Hiroki Kurahashi Hidehito Inagaki
JOURNAL OF HUMAN GENETICS 61(8) 701-703 2016年8月 [査読有り][招待有り]
Hypertension and brachydactyly syndrome (HTNB) with short stature is an autosomal-dominant disorder. Mutations in the PDE3A gene located at 12p12.2-p11.2 were recently identified in HTNB families. We found a novel heterozygous missense mutation c....
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医療科学部