Associated Papers
Clinical, genetic, and neuroimaging profiles of autosomal recessive spinocerebellar ataxia type 4 caused by novel VPS13D variants in Chinese.
Dong Y et al.
American Journal of Medical Genetics. Part A, 2024
A boy with a progressive neurologic decline harboring two coexisting mutations in KMT2D and VPS13D.
Chang YM et al.
Brain & Development, 2023
Novel compound heterozygous mutations of ALDH1A3 contribute to anophthalmia in a non-consanguineous Chinese family.
Liu Y et al.
Genetics and Molecular Biology, 0
28590501 (PubMed )
Supplement: 1415-4757-gmb-1678-4685-GMB-2016-0120-Suppl03.pdf
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