Case Report: Concurrent maternal uniparental disomy-type Prader-Willi syndrome and X-linked G6PD deficiency—an area of focus on multi-gene screening for imprinting disorders
Prader-Willi syndrome (PWS) is a rare imprinting disorder caused by functional impairment of imprinted genes within the paternal 15q11.2-q13 region. Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked hereditary disorder. Cases describing the coexistence of maternal uniparental disomy (UPD)-type PWS...