Associated Papers
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
Possible mitochondrial dysfunction in a patient with deafness, dystonia, and cerebral hypomyelination (DDCH) due to BCAP31 Mutation.
Shimizu K et al.
Molecular Genetics & Genomic Medicine, 2020
Mutations in BCAP31 cause a severe X-linked phenotype with deafness, dystonia, and central hypomyelination and disorganize the Golgi apparatus.
Cacciagli P et al.
American Journal of Human Genetics, 2013
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