Article
Integrated multi-platform genetic profiling reveals dual molecular pathology in 46, XY disorders of sex development through NR5A1 Haploinsufficiency and maternal chromosome 15 UPD.
Human molecular genetics - 8 Jul 2026
Dong Rui, Liu Chen, Gao Min, Yu Kunkun, Zhang Lei, Wang Xiaochen, Li Kaisheng, Li Hongying, Zhang Kaihui, Liu Guohua
Abstract excerpt
BACKGROUND: Dual molecular diagnoses involving concurrent monogenic variants and imprinting disorders are increasingly recognized in complex phenotypes, yet systematic approaches to elucidate such convergence remain limited. METHODS: We report a 46,XY proband with disorders of sex development (DSD), global developmental delay, and clinical features suggestive of Prader-Willi syndrome (PWS). We performed...
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