Developmental regression with early feeding difficulties and characteristic neuroimaging features of H-ABC in an infant from a TUBB4A genetic variant.

Charles-Britton, Billie; Leong, Yen Lee; Clark, Damian; Lynch, Matthew; Donoghue, Sarah E

Charles-Britton, Billie; Leong, Yen Lee; Clark, Damian; Lynch, Matthew; Donoghue, Sarah E.

Afiliação

Charles-Britton B; Metabolic Department, Women's and Children's Hospital, North Adelaide, South Australia, Australia.
Leong YL; Department of Medical Imaging, Women's and Children's Hospital, North Adelaide, South Australia, Australia.
Clark D; Neurology Department, Women's and Children's Hospital, North Adelaide, South Australia, Australia.
Lynch M; Department of Paediatrics, Lyell McEwin Hospital, Elizabeth Vale, South Australia, Australia.
Donoghue SE; Metabolic Department, Women's and Children's Hospital, North Adelaide, South Australia, Australia.

J Paediatr Child Health ; 59(11): 1264-1266, 2023 Nov.

Article em En | MEDLINE | ID: mdl-37698109

Assuntos

Neuroimagem; Tubulina (Proteína); Humanos; Lactente; Fenótipo; Mutação; Tubulina (Proteína)/genética

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Tubulina (Proteína) / Neuroimagem Limite: Humans / Infant Idioma: En Ano de publicação: 2023 Tipo de documento: Article

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