Novel deletion of exon 3 in TYR gene causing Oculocutaneous albinism 1B in an Indian family along with intellectual disability associated with chromosomal copy number variations

BACKGROUND: Oculocutaneous albinism (OCA) is an autosomal recessive disorder characterized by hypo-pigmentation of skin, hair, and eyes. The OCA clinical presentation is due to a deficiency of melanin biosynthesis. Intellectual disability (ID) in OCA cases is a rare clinical presentation and appropr...

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Detalles Bibliográficos
Autores principales: Dhangar, Somprakash, Panchal, Purvi, Ghatanatti, Jagdeeshwar, Suralkar, Jitendra, Shah, Anjali, Vundinti, Babu Rao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8722050/
https://www.ncbi.nlm.nih.gov/pubmed/34980106
http://dx.doi.org/10.1186/s12920-021-01152-1

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