Associated Papers
An X-Linked Ataxia Syndrome in a Family with Hearing Loss Associated with a Novel Variant in the BCAP31 Gene.
Paucar M et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2025
39831730 (PubMed )
Supplement: MDS-40-672-s006.pdf
Case Report: The first Korean familial case of BCAP31-related deafness, dystonia, and cerebral hypomyelination.
Suh YA et al.
Frontiers in Pediatrics, 2024
Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants.
Whalen S et al.
European Journal of Human Genetics : Ejhg, 2021
Schimke XLID syndrome results from a deletion in BCAP31.
Louie RJ et al.
American Journal of Medical Genetics. Part A, 2020
BCAP31-related syndrome: The first de novo report.
Rinaldi B et al.
European Journal of Medical Genetics, 2020
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