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
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