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

• Main Authors: Somprakash Dhangar (Author), Purvi Panchal (Author), Jagdeeshwar Ghatanatti (Author), Jitendra Suralkar (Author), Anjali Shah (Author), Babu Rao Vundinti (Author)
• Format: Book
• Published: BMC, 2022-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract 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...