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Microcephaly with a simplified gyral pattern in a child with a de novo TUBA1A variant.
Wei, Heming; Krishnappa, Janardhan; Lin, Grace; Kavalloor, Nirmal; Lim, Jiin Ying; Goh, Chew-Yin Jasmine; Jamuar, Saumya Shekhar; Thomas, Terrence; Tan, Ene Choo.
Afiliação
  • Wei H; Research Laboratory, KK Women's & Children's Hospital, Singapore.
  • Krishnappa J; Neurology Service, Department of Paediatrics, KK Women's & Children's Hospital, Singapore.
  • Lin G; Paediatrics Academic Clinical Programme, SingHealth Duke-NUS Medical School, Singapore.
  • Kavalloor N; Research Laboratory, KK Women's & Children's Hospital, Singapore.
  • Lim JY; Department of Neonatology, KK Women's & Children's Hospital, Singapore.
  • Goh CJ; Genetics Service, Department of Paediatrics, KK Women's & Children's Hospital, Singapore.
  • Jamuar SS; Division of Nursing, KK Women's & Children's Hospital, Singapore.
  • Thomas T; Paediatrics Academic Clinical Programme, SingHealth Duke-NUS Medical School, Singapore.
  • Tan EC; Genetics Service, Department of Paediatrics, KK Women's & Children's Hospital, Singapore.
Am J Med Genet A ; 182(3): 576-578, 2020 03.
Article em En | MEDLINE | ID: mdl-31833200

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies Limite: Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Ano de publicação: 2020 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies Limite: Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Ano de publicação: 2020 Tipo de documento: Article