Associated Papers
A novel UBE2A splice site variant causing intellectual disability type Nascimento.
Yan S et al.
Clinical Case Reports, 2022
A novel missense mutation in the UBE2A gene causes intellectual disability in the large X-linked family.
Arslan Satılmış SB et al.
The Journal of Gene Medicine, 2021
A novel UBE2A mutation in a Chinese family with X-linked intellectual disability.
Jia W et al.
The Journal of Gene Medicine, 2020
A novel splice site mutation in the UBE2A gene leads to aberrant mRNA splicing in a Chinese patient with X-linked intellectual disability type Nascimento.
Ma D et al.
Molecular Genetics & Genomic Medicine, 2019
UBE2A-related X-linked intellectual disability.
Stevenson RE et al.
Clinical Dysmorphology, 2019
X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity.
Czeschik JC et al.
Orphanet Journal of Rare Diseases, 2013
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