Your browser doesn't support javascript.
loading
ßIV Spectrinopathies Cause Profound Intellectual Disability, Congenital Hypotonia, and Motor Axonal Neuropathy.
Wang, Chih-Chuan; Ortiz-González, Xilma R; Yum, Sabrina W; Gill, Sara M; White, Amy; Kelter, Erin; Seaver, Laurie H; Lee, Sansan; Wiley, Graham; Gaffney, Patrick M; Wierenga, Klaas J; Rasband, Matthew N.
Afiliação
  • Wang CC; Department of Neuroscience and Integrative Molecular and Biomedical Sciences Graduate Program, Baylor College of Medicine, Houston, TX 77030, USA.
  • Ortiz-González XR; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA; Division of Neurology, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Yum SW; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA; Division of Neurology, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Gill SM; Department of Audiology, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • White A; Department of Audiology, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Kelter E; Women and Children's Hospital of Buffalo, Buffalo, NY 14203, USA.
  • Seaver LH; Spectrum Health Medical Genetics, MSU College of Human Medicine, Department of Pediatrics and Human Development, Grand Rapids, MI 49503, USA.
  • Lee S; Hawai'i Community Genetics, Honolulu, HI 96814, USA.
  • Wiley G; Division of Genomics and Data Sciences, Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, Oklahoma 73104, USA.
  • Gaffney PM; Division of Genomics and Data Sciences, Arthritis and Clinical Immunology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, Oklahoma 73104, USA.
  • Wierenga KJ; Department of Pediatrics, Oklahoma University Health Sciences Center, Oklahoma City, OK 73104, USA. Electronic address: klaas-wierenga@ouhsc.edu.
  • Rasband MN; Department of Neuroscience and Integrative Molecular and Biomedical Sciences Graduate Program, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address: rasband@bcm.edu.
Am J Hum Genet ; 102(6): 1158-1168, 2018 06 07.
Article em En | MEDLINE | ID: mdl-29861105
Assuntos
Palavras-chave
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Axônios / Espectrina / Doença dos Neurônios Motores / Deficiência Intelectual / Hipotonia Muscular / Proteínas do Tecido Nervoso Tipo de estudo: Prognostic_studies Limite: Animals / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Am J Hum Genet Ano de publicação: 2018 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Axônios / Espectrina / Doença dos Neurônios Motores / Deficiência Intelectual / Hipotonia Muscular / Proteínas do Tecido Nervoso Tipo de estudo: Prognostic_studies Limite: Animals / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Am J Hum Genet Ano de publicação: 2018 Tipo de documento: Article