Prospective Study of the Phenotypic and Mutational Spectrum of Ocular Albinism and Oculocutaneous Albinism

Albinism encompasses a group of hereditary disorders characterized by reduced or absent ocular pigment and variable skin and/or hair involvement, with syndromic forms such as Hermansky–Pudlak syndrome and Chédiak–Higashi syndrome. Autosomal recessive oculocutaneous albinism (OCA) is phenotypically a...

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Detalles Bibliográficos
Autores principales: Chan, Hwei Wuen, Schiff, Elena R., Tailor, Vijay K., Malka, Samantha, Neveu, Magella M., Theodorou, Maria, Moosajee, Mariya
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8065601/
https://www.ncbi.nlm.nih.gov/pubmed/33808351
http://dx.doi.org/10.3390/genes12040508

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8065601/
https://www.ncbi.nlm.nih.gov/pubmed/33808351
http://dx.doi.org/10.3390/genes12040508

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