Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising.
Bradley PowerCarlos R FerreiraDong ChenWadih M ZeinKevin J O'BrienWendy J IntroneJoshi StephenWilliam A GahlMarjan HuizingMay Christine V MalicdanDavid R AdamsBernadette R GochuicoPublished in: Orphanet journal of rare diseases (2019)
Clinical manifestations of oculocutaneous albinism and easy bruisability may be observed in children with HPS or OCA1. Establishing definitive diagnoses in children presenting with these phenotypic features is facilitated by genetic testing. Non-syndromic oculocutaneous albinism and various HPS subtypes, including HPS-4, are found in children of Chinese ancestry.