Yi-Dan Liu Dan-Dan Tan Dan-Yu Song Yan-Bin Fan Xiao-Na Fu Lin Ge Wei Wei Hui Xiong
10.3389/fgene.2023.1170089
Front Genet
2023 Jun 5;14:1170089.
pomgnt1 dystroglycanopathy (dgp) muscle-eye-brain disease (meb) splice-site variant uniparental disomy (upd)
CC BY
https://pubmed.ncbi.nlm.nih.gov/37342771/
Case Reports
PMC10277930
37342771
Uniparental disomy for chromosome 1 with POMGNT1 splice-site variant causes muscle-eye-brain disease
2023