Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients

Purpose Temple 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. Methods We performed molecular studies for TS14 in 356 patients with variable phenotype...

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Veröffentlicht in:Genetics in medicine 2017-12, Vol.19 (12), p.1356-1366
Hauptverfasser: 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
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Sprache:eng
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