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

American Journal of Human Genetics

Volumn 87, Issue 6, 2010, Pages 882-889

  Mochida, Ganeshwaran H ^a,b,c   Ganesh, Vijay S ^a   Felie, Jillian M ^a   Gleason, Danielle ^a   Hill, R Sean ^a,b   Clapham, Katie Rose ^a   Rakiec, Daniel ^a   Tan, Wen Hann ^a   Akawi, Nadia ^d   Al Saffar, Muna ^a   Partlow, Jennifer N ^a   Tinschert, Sigrid ^e   Barkovich, A James ^f   Ali, Bassam ^d   Al Gazali, Lihadh ^d   Walsh, Christopher A ^a,b,g  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

^c MASSACHUSETTS GENERAL HOSPITAL   (United States)

^d UNITED ARAB EMIRATES UNIVERSITY   (United Arab Emirates)

^e DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

^f UNIVERSITY OF CALIFORNIA   (United States)

^g BETH ISRAEL DEACONESS MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

JUNCTIONAL ADHESION MOLECULE 3 PROTEIN; MEMBRANE PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BRAIN CALCIFICATION; BRAIN HEMORRHAGE; CASE REPORT; CHILD; CHROMOSOME 11Q; CONGENITAL CATARACT; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; GENE SEQUENCE; GENETIC LINKAGE; HOMOZYGOSITY; HUMAN; INFANT; INTRON; LYMPHOBLAST; MALE; PRESCHOOL CHILD; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS; SUBEPENDYMAL CALCIFICATION;

CALCINOSIS; CATARACT; CELL ADHESION MOLECULES; CEREBRAL HEMORRHAGE; CHILD; EPENDYMA; FEMALE; HOMOZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUTATION; PEDIGREE; TIGHT JUNCTIONS;

EID: 78649789071     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2010.10.026     Document Type: Article

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