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Novel compound heterozygous mutations in GPT2 linked to microcephaly, and intellectual developmental disability with or without spastic paraplegia.
Kaymakcalan, Hande; Yarman, Yanki; Goc, Nukte; Toy, Fatih; Meral, Cihan; Ercan-Sencicek, A Gulhan; Gunel, Murat.
Afiliação
  • Kaymakcalan H; Istanbul Bilim University, Istanbul, Turkey.
  • Yarman Y; Department of Neurosurgery, Program on Neurogenetics, Yale School of Medicine, New Haven, Connecticut.
  • Goc N; Department of Neurosurgery, Program on Neurogenetics, Yale School of Medicine, New Haven, Connecticut.
  • Toy F; Department of Neurosurgery, Program on Neurogenetics, Yale School of Medicine, New Haven, Connecticut.
  • Meral C; Department of Pediatric Neurology, Sultan Abdulhamit Hospital, Istanbul, Turkey.
  • Ercan-Sencicek AG; Department of Neurosurgery, Program on Neurogenetics, Yale School of Medicine, New Haven, Connecticut.
  • Gunel M; Department of Neurosurgery, Program on Neurogenetics, Yale School of Medicine, New Haven, Connecticut.
Am J Med Genet A ; 176(2): 421-425, 2018 02.
Article em En | MEDLINE | ID: mdl-29226631
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Deficiências do Desenvolvimento / Transaminases / Deficiência Intelectual / Microcefalia Limite: Adolescent / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Deficiências do Desenvolvimento / Transaminases / Deficiência Intelectual / Microcefalia Limite: Adolescent / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2018 Tipo de documento: Article