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

J Paediatr Child Health. 2023 Nov;59(11):1264-1266. doi: 10.1111/jpc.16492. Epub 2023 Sep 12.

Authors

Billie Charles-Britton¹, Yen Lee Leong², Damian Clark³, Matthew Lynch⁴, Sarah E Donoghue¹

Affiliations

¹ Metabolic Department, Women's and Children's Hospital, North Adelaide, South Australia, Australia.
² Department of Medical Imaging, Women's and Children's Hospital, North Adelaide, South Australia, Australia.
³ Neurology Department, Women's and Children's Hospital, North Adelaide, South Australia, Australia.
⁴ Department of Paediatrics, Lyell McEwin Hospital, Elizabeth Vale, South Australia, Australia.

PMID: 37698109
DOI: 10.1111/jpc.16492

No abstract available

Publication types

Case Reports

MeSH terms

Humans
Infant
Mutation
Neuroimaging*
Phenotype
Tubulin* / genetics

Substances

TUBB4A protein, human
Tubulin