Hemorrhagic destruction of the brain, subependymal calcification, and cataracts

Definition:

Hemorrhagic destruction of the brain, subependymal calcification, and cataracts is an autosomal-recessive syndrome with severe hemorrhagic destruction of the brain as a cardinal feature. A mutation in JAM3 that encodes tight-junction protein causes this syndrome.

References:

[1]. Ganeshwaran H Mochida, et al. A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts. Am J Hum Genet. 2010 Dec 10;87(6):882-9. [Content Brief]

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