1. Hermansky–Pudlak syndrome: Mutation update
    Marjan Huizing et al, 2020, Human Mutation CrossRef
  2. Prenatal diagnosis and genetic counseling of complete uniparental isodisomy of chromosome 3 with no phenotypic abnormalities
    Ju Zhao et al, 2020, Taiwanese Journal of Obstetrics and Gynecology CrossRef
  3. A novel mutation causes Hermansky-Pudlak syndrome type 4 with pulmonary fibrosis in 2 siblings from China
    Wenjuan Wu et al, 2019, Medicine CrossRef