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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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Podrobná bibliografie
Vydáno v:Genes (Basel)
Hlavní autoři: Chan, Hwei Wuen, Schiff, Elena R., Tailor, Vijay K., Malka, Samantha, Neveu, Magella M., Theodorou, Maria, Moosajee, Mariya
Médium: Artigo
Jazyk:Inglês
Vydáno: MDPI 2021
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC8065601/
https://ncbi.nlm.nih.gov/pubmed/33808351
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes12040508
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