Article
Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Dec 2017
Kagami Masayo, Nagasaki Keisuke, Kosaki Rika, Horikawa Reiko, Naiki Yasuhiro, Saitoh Shinji, Tajima Toshihiro, Yorifuji Tohru, Numakura Chikahiko, Mizuno Seiji, Nakamura Akie, Matsubara Keiko, Fukami Maki, Ogata Tsutomu
Abstract excerpt
PurposeTemple syndrome (TS14) is a rare imprinting disorder caused by aberrations at the 14q32.2 imprinted region. Here, we report comprehensive molecular and clinical findings in 32 Japanese patients with TS14.MethodsWe performed molecular studies for TS14 in 356 patients with variable phenotypes, and clinical studies in all TS14 patients, including 13 previously reported.ResultsWe identified 19 new patients...
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