TY  - GEN
AU  - Mochida,Ganeshwaran H
AU  - Ganesh,Vijay S
AU  - Felie,Jillian M
AU  - Gleason,Danielle
AU  - Hill,R Sean
AU  - Clapham,Katie Rose
AU  - Rakiec,Daniel
AU  - Tan,Wen-Hann
AU  - Akawi,Nadia
AU  - Al-Saffar,Muna
AU  - Partlow,Jennifer N
AU  - Tinschert,Sigrid
AU  - Barkovich,A James
AU  - Ali,Bassam
AU  - Al-Gazali,Lihadh
AU  - Walsh,Christopher A
TI  - A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts
SN  - 1537-6605
PY  - 2011///0118
KW  - Calcinosis
KW  - genetics
KW  - Cataract
KW  - congenital
KW  - Cell Adhesion Molecules
KW  - Cerebral Hemorrhage
KW  - Child
KW  - Ependyma
KW  - pathology
KW  - Female
KW  - Homozygote
KW  - Humans
KW  - Infant
KW  - Infant, Newborn
KW  - Male
KW  - Mutation
KW  - Pedigree
KW  - Tight Junctions
KW  - metabolism
N1  - Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.ajhg.2010.10.026
ER  -