Art

J-GLOBAL ID：201702245377793867   Reference number：17A0285076

Multilocus methylation defects in a patient presenting with both clinical phenotype of pseudohypoparathyroidism type Ib and Beckwith-Wiedemann syndrome

偽副甲状腺機能低下症Ib型及びBeckwith-Wiedemann症候群の両方の臨床表現型を表す患者における多遺伝子座メチル化欠損

Author (9)： SANO Shinichiro (National Res. Inst. for Child Health and Dev., JPN) ,  MATSUBARA Keiko (National Res. Inst. for Child Health and Dev., JPN) ,  NAGASAKI Keisuke (Niigata Univ. Graduate School of Medical and Dental Sci., Niigata) ,  NAKAMURA Akie (National Res. Inst. for Child Health and Dev., JPN) ,  NAKABAYASHI Kazuhiro (National Res. Inst. for Child Health and Dev., Tokyo) ,  HATA Kenichiro (National Res. Inst. for Child Health and Dev., Tokyo) ,  FUKAMI Maki (National Res. Inst. for Child Health and Dev., JPN) ,  OGATA Tsutomu (Hamamatsu Univ. School of Medicine, Hamamatsu) ,  KAGAMI Masayo (National Res. Inst. for Child Health and Dev., JPN)
Material： 日本人類遺伝学会大会プログラム・抄録集  (日本人類遺伝学会大会)
Volume： 61st(Web)  Page： ROMBUNNO.Tue(3)-P-250 (WEB ONLY)  Publication year： 2016 
JST Material Number： L1204A  Document type： Proceedings
Article type： 短報  Country of issue： Japan (JPN)  Language： ENGLISH (EN)

Thesaurus term： human(primates) ,...
Semi thesaurus term： *Beckwith-Wiedemann Syndrome ,...

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JST classification (2)： Congenital diseases,deformities in general.  (GD03010V) ,  Molecular genetics in general  (EC02010J)

Terms in the title (7)： 偽副甲状腺機能低下症 ,  Beckwith-Wiedemann症候群 ,  臨床表現型 ,  患者 ,  遺伝子座 ,  メチル化 ,  欠損