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De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies.
Hamanaka, Kohei; Sugawara, Yuji; Shimoji, Takeyoshi; Nordtveit, Tone Irene; Kato, Mitsuhiro; Nakashima, Mitsuko; Saitsu, Hirotomo; Suzuki, Toshimitsu; Yamakawa, Kazuhiro; Aukrust, Ingvild; Houge, Gunnar; Mitsuhashi, Satomi; Takata, Atsushi; Iwama, Kazuhiro; Alkanaq, Ahmed; Fujita, Atsushi; Imagawa, Eri; Mizuguchi, Takeshi; Miyake, Noriko; Miyatake, Satoko; Matsumoto, Naomichi.
Afiliación
  • Hamanaka K; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, 236-0004, Japan.
  • Sugawara Y; Department of Pediatrics, Soka Municipal Hospital, Soka, Saitama, 340-8560, Japan.
  • Shimoji T; Department of Neurosurgery, Okinawa Pref. Nanbu Medical Center and Children's Medical Center, Arakawa Haebaru, Okinawa, 901-1193, Japan.
  • Nordtveit TI; Department of Medical Genetics, Haukeland University Hospital, Bergen, 5021, Norway.
  • Kato M; Department of Pediatrics, Showa University School of Medicine, Tokyo, 142-8666, Japan.
  • Nakashima M; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Shizuoka, 431-3192, Japan.
  • Saitsu H; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Shizuoka, 431-3192, Japan.
  • Suzuki T; Laboratory for Neurogenetics, RIKEN Center for Brain Science, Wako, Saitama, 351-0198, Japan.
  • Yamakawa K; Laboratory for Neurogenetics, RIKEN Center for Brain Science, Wako, Saitama, 351-0198, Japan.
  • Aukrust I; Department of Medical Genetics, Haukeland University Hospital, Bergen, 5021, Norway.
  • Houge G; Department of Medical Genetics, Haukeland University Hospital, Bergen, 5021, Norway.
  • Mitsuhashi S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, 236-0004, Japan.
  • Takata A; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, 236-0004, Japan.
  • Iwama K; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, 236-0004, Japan.
  • Alkanaq A; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, 236-0004, Japan.
  • Fujita A; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, 236-0004, Japan.
  • Imagawa E; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, 236-0004, Japan.
  • Mizuguchi T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, 236-0004, Japan.
  • Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, 236-0004, Japan.
  • Miyatake S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, 236-0004, Japan.
  • Matsumoto N; Clinical Genetics Department, Yokohama City University Hospital, Yokohama, Kanagawa, 236-0004, Japan.
Eur J Hum Genet ; 27(3): 378-383, 2019 03.
Article en En | MEDLINE | ID: mdl-30487643
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Exostosis Múltiple Hereditaria / Anomalías Craneofaciales / Trastornos de los Cromosomas / Epilepsia / Trastorno del Espectro Autista / Histona Desacetilasas / Discapacidad Intelectual Tipo de estudio: Prognostic_studies Límite: Child / Child, preschool / Humans / Male Idioma: En Revista: Eur J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article País de afiliación: Japón
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Exostosis Múltiple Hereditaria / Anomalías Craneofaciales / Trastornos de los Cromosomas / Epilepsia / Trastorno del Espectro Autista / Histona Desacetilasas / Discapacidad Intelectual Tipo de estudio: Prognostic_studies Límite: Child / Child, preschool / Humans / Male Idioma: En Revista: Eur J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article País de afiliación: Japón