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Polymicrogyria in association with hypoglycemia points to mutation in the mTOR pathway.
Stutterd, Chloe; McGillivray, George; Stark, Zornitza; Messazos, Betty; Cameron, Fergus; White, Sue; Mirzaa, Ghayda; Leventer, Richard.
Afiliação
  • Stutterd C; Department of Neurology, Royal Children's Hospital, Melbourne, Australia; Victorian Clinical Genetics Service, Melbourne, Australia; Murdoch Children's Research Institute, Melbourne, Australia; Department of Paediatrics, University of Melbourne, Melbourne, Australia. Electronic address: chloe.stutte
  • McGillivray G; Victorian Clinical Genetics Service, Melbourne, Australia; Murdoch Children's Research Institute, Melbourne, Australia; Royal Women's Hospital, Melbourne, Australia.
  • Stark Z; Victorian Clinical Genetics Service, Melbourne, Australia; Murdoch Children's Research Institute, Melbourne, Australia.
  • Messazos B; Murdoch Children's Research Institute, Melbourne, Australia; Department of Endocrinology, Royal Children's Hospital, Melbourne, Australia.
  • Cameron F; Murdoch Children's Research Institute, Melbourne, Australia; Department of Endocrinology, Royal Children's Hospital, Melbourne, Australia.
  • White S; Victorian Clinical Genetics Service, Melbourne, Australia; Murdoch Children's Research Institute, Melbourne, Australia; Department of Paediatrics, University of Melbourne, Melbourne, Australia.
  • Mirzaa G; Department of Pediatrics, University of Washington, Seattle, WA, USA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.
  • Leventer R; Department of Neurology, Royal Children's Hospital, Melbourne, Australia; Murdoch Children's Research Institute, Melbourne, Australia; Department of Paediatrics, University of Melbourne, Melbourne, Australia.
Eur J Med Genet ; 61(12): 738-740, 2018 Dec.
Article em En | MEDLINE | ID: mdl-29883676
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Megalencefalia / Serina-Treonina Quinases TOR / Polimicrogiria / Hipoglicemia Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Animals / Humans / Infant / Male Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de publicação: Holanda
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Megalencefalia / Serina-Treonina Quinases TOR / Polimicrogiria / Hipoglicemia Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Animals / Humans / Infant / Male Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de publicação: Holanda