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Biallelic null variants in ZNF142 cause global developmental delay with familial epilepsy and dysmorphic features.
Kameyama, Shinichi; Mizuguchi, Takeshi; Fukuda, Hiromi; Moey, Lip Hen; Keng, Wee Teik; Okamoto, Nobuhiko; Tsuchida, Naomi; Uchiyama, Yuri; Koshimizu, Eriko; Hamanaka, Kohei; Fujita, Atsushi; Miyatake, Satoko; Matsumoto, Naomichi.
Afiliação
  • Kameyama S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Mizuguchi T; Department of Pathology, Keio University School of Medicine, Tokyo, Japan.
  • Fukuda H; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Moey LH; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Keng WT; Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Okamoto N; Department of Genetics, Penang General Hospital, George Town, Penang, Malaysia.
  • Tsuchida N; Department of Genetics, Hospital Kuala Lumpur, Kuala Lumpur, Malaysia.
  • Uchiyama Y; Department of Medical Genetics, Osaka Women's and Children's Hospital, Izumi, Japan.
  • Koshimizu E; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Hamanaka K; Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama, Japan.
  • Fujita A; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Miyatake S; Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama, Japan.
  • Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
J Hum Genet ; 67(3): 169-173, 2022 Mar.
Article em En | MEDLINE | ID: mdl-34531528
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Epilepsia / Transtornos do Neurodesenvolvimento / Síndromes Epilépticas Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Epilepsia / Transtornos do Neurodesenvolvimento / Síndromes Epilépticas Idioma: En Ano de publicação: 2022 Tipo de documento: Article