Genotypic and phenotypic analysis of an oculocutaneous albinism patient: a case report and review of the literature
Q Ma, W Wang - Journal of Medical Case Reports, 2024 - Springer
Background Oculocutaneous albinism is a rare autosomal recessive disorder caused by
congenital melanin deficiency, resulting in hypopigmentation of the eyes, hair, and skin. This …
congenital melanin deficiency, resulting in hypopigmentation of the eyes, hair, and skin. This …
[HTML][HTML] Masks of Albinism: Clinical Spectrum of Hermansky–Pudlak Syndrome
AM Bobreshova, SA Ionova, VV Kadyshev… - International Journal of …, 2024 - mdpi.com
Hermansky–Pudlak syndrome (HPS) is a rare disease inherited in the autosomal recessive
mode, including 11 clinical genetic subtypes. They are associated with impaired function of …
mode, including 11 clinical genetic subtypes. They are associated with impaired function of …