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