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 phenoty...

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Библиографические подробности
Опубликовано в: :Genet Med
Главные авторы: 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
Формат: Artigo
Язык:Inglês
Опубликовано: Nature Publishing Group 2017
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Original Research Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC5729347/
https://ncbi.nlm.nih.gov/pubmed/28640239
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2017.53
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