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Heterozygous calcyclin-binding protein/Siah1-interacting protein (CACYBP/SIP) gene pathogenic variant linked to a dominant family with paucity of interlobular bile duct.
Kanno, Miyako; Suzuki, Mitsuyoshi; Tanikawa, Ken; Numakura, Chikahiko; Matsuzawa, Shu-Ichi; Niihori, Tetsuya; Aoki, Yoko; Matsubara, Yoichi; Makino, Satoshi; Tamiya, Gen; Nakano, Satoshi; Funayama, Ryo; Shirota, Matsuyuki; Nakayama, Keiko; Mitsui, Tetsuo; Hayasaka, Kiyoshi.
Afiliação
  • Kanno M; Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan.
  • Suzuki M; Department of Pediatrics, Juntendo University Faculty of Medicine, Tokyo, Japan.
  • Tanikawa K; Departments of Pathology, Kurume University School of Medicine, Kurume, Fukuoka, Japan.
  • Numakura C; Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan.
  • Matsuzawa SI; Department of Neurology, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
  • Niihori T; Department of Medical Genetics, Tohoku University Graduate School of Medicine, Sendai, Japan.
  • Aoki Y; Department of Medical Genetics, Tohoku University Graduate School of Medicine, Sendai, Japan.
  • Matsubara Y; National Center for Child Health and Development, Setagaya, Tokyo, Japan.
  • Makino S; Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan.
  • Tamiya G; Tohoku Medical Megabank Organization, Tohoku University, Sendai, Japan.
  • Nakano S; Statistical Genetics Team, RIKEN Center for Advanced Intelligence Project, Tokyo, Japan.
  • Funayama R; Department of Pediatrics, Juntendo University Faculty of Medicine, Tokyo, Japan.
  • Shirota M; Division of Cell Proliferation, ART, Tohoku University Graduate School of Medicine, Sendai, Japan.
  • Nakayama K; Division of Interdisciplinary Medical Sciences, ART, Tohoku University Graduate School of Medicine, Sendai, Japan.
  • Mitsui T; Division of Cell Proliferation, ART, Tohoku University Graduate School of Medicine, Sendai, Japan.
  • Hayasaka K; Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan.
J Hum Genet ; 67(7): 393-397, 2022 Jul.
Article em En | MEDLINE | ID: mdl-35087201

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas de Ligação ao Cálcio / Síndrome de Alagille / Beta Catenina Limite: Humans / Infant / Newborn Idioma: En Ano de publicação: 2022 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas de Ligação ao Cálcio / Síndrome de Alagille / Beta Catenina Limite: Humans / Infant / Newborn Idioma: En Ano de publicação: 2022 Tipo de documento: Article