| 1 | BCPMG2, JAM3 |
| Delineation of the clinical, molecular and cellular aspects of novel JAM3 mutations underlying the autosomal recessive hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts. | |
| Akawi NA, Canpolat FE, White SM, Quilis-Esquerra J, Morales Sanchez M, Gamundi MJ, Mochida GH, Walsh CA, Ali BR, Al-Gazali L. | |
| Hum Mutat 34(3):498-505. doi: 10.1002/humu.22263. 2013 | |
| 2 | BCPMG2, JAM3 |
| A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts. | |
| Mochida GH, Ganesh VS, Felie JM, Gleason D, Hill RS, Clapham KR, Rakiec D, Tan WH, Akawi N, Al-Saffar M, Partlow JN, Tinschert S, Barkovich AJ, Ali B, Al-Gazali L, Walsh CA. | |
| Am J Hum Genet 87(6):882-9. Epub 2010 Nov 25.PMID: 21109224 2010 | |