Clinical and Mutation Spectrum of Autosomal Recessive Non-Syndromic Oculocutaneous Albinism (nsOCA) in Pakistan: A Review

Oculocutaneous albinism (OCA) is an autosomal recessive syndromic and non-syndromic defect with deficient or a complete lack of the melanin pigment. The characteristics of OCA appears in skin, hair, and eyes with variable degree of pigmentation. Clinical manifestations of OCA include nystagmus, phot...

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Detalles Bibliográficos
Autor principal: Ullah, Muhammad Ikram
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9222488/
https://www.ncbi.nlm.nih.gov/pubmed/35741834
http://dx.doi.org/10.3390/genes13061072

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9222488/
https://www.ncbi.nlm.nih.gov/pubmed/35741834
http://dx.doi.org/10.3390/genes13061072

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