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A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts.
Mochida, Ganeshwaran H; Ganesh, Vijay S; Felie, Jillian M; Gleason, Danielle; Hill, R Sean; Clapham, Katie Rose; Rakiec, Daniel; Tan, Wen-Hann; Akawi, Nadia; Al-Saffar, Muna; Partlow, Jennifer N; Tinschert, Sigrid; Barkovich, A James; Ali, Bassam; Al-Gazali, Lihadh; Walsh, Christopher A.
Affiliation
  • Mochida GH; Manton Center for Orphan Disease Research, Howard Hughes Medical Institute, Department of Medicine, Children's Hospital Boston, MA 02115, USA.
Am J Hum Genet ; 87(6): 882-9, 2010 Dec 10.
Article in En | MEDLINE | ID: mdl-21109224
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cataract / Calcinosis / Cell Adhesion Molecules / Cerebral Hemorrhage / Tight Junctions / Ependyma / Homozygote / Mutation Type of study: Etiology_studies / Prognostic_studies Limits: Child / Female / Humans / Infant / Male / Newborn Language: En Journal: Am J Hum Genet Year: 2010 Document type: Article Affiliation country: United States Country of publication: United States
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cataract / Calcinosis / Cell Adhesion Molecules / Cerebral Hemorrhage / Tight Junctions / Ependyma / Homozygote / Mutation Type of study: Etiology_studies / Prognostic_studies Limits: Child / Female / Humans / Infant / Male / Newborn Language: En Journal: Am J Hum Genet Year: 2010 Document type: Article Affiliation country: United States Country of publication: United States