Retinal Findings in Haemorrhagic Destruction of the Brain, Subependymal Calcification, and Congenital Cataracts (HDBSCC): Case Report and Review
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DOI: 10.1080/01658107.2022.2072517
Abstract: ABSTRACT We describe a child from a consanguineous family born with a rare autosomal recessive disorder affecting junctional adhesion molecule 3 (JAM3) causing profound neurological and ophthalmological injury known as haemorrhagic brain destruction, subependymal calcifications,… read more here.
Keywords: brain; cataracts hdbscc; congenital cataracts; poor vision ... See more keywords