[Clinical feature and genetic analysis of a child with X-linked Opitz G/BBB syndrome caused by nonsense variant in the MID1 gene mediated by mRNA degradation escape].
Year: 2025
Type: article
Study design: Case Report
Source: PubMed
Authors: Yingyu Yan, Li He, Ying Yang, Duan Wang, Haiqing Zhang, Yanni Chen
Institution: Xi’an Children’s Hospital
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: closed
OpenAlex ID: W4410313558