A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts.

Mochida, Ganeshwaran H

A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts. [electronic resource] - American journal of human genetics Dec 2010 - 882-9 p. digital

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

1537-6605

10.1016/j.ajhg.2010.10.026 doi


Calcinosis--genetics
Cataract--congenital
Cell Adhesion Molecules--genetics
Cerebral Hemorrhage--genetics
Child
Ependyma--pathology
Female
Homozygote
Humans
Infant
Infant, Newborn
Male
Mutation
Pedigree
Tight Junctions--metabolism