Developmental regression with early feeding difficulties and characteristic neuroimaging features of <scp>H‐ABC</scp> in an infant from a <scp>TUBB4A</scp> genetic variant-Reference-Cited by-同舟云学术

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

Published:2023-09-12 Issue:11 Volume:59 Page:1264-1266
ISSN:1034-4810
Container-title:Journal of Paediatrics and Child Health
language:en
Short-container-title:J Paediatrics Child Health

Author:

Charles‐Britton Billie¹,Leong Yen Lee²,Clark Damian³,Lynch Matthew⁴,Donoghue Sarah E¹^ORCID

Affiliation:

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

Publisher

Wiley

Subject

Pediatrics, Perinatology and Child Health

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/jpc.16492

Reference14 articles.

1. The molecular biology of tubulinopathies: Understanding the impact of variants on tubulin structure and microtubule regulation

2. Building the Neuronal Microtubule Cytoskeleton

3. Motor protein binding and mitochondrial transport are altered by pathogenic TUBB4A variants

4. Intellectual disability genomics: current state, pitfalls and future challenges

5. Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype–phenotype correlation

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