| 1 | LTBP2, WMS3 |
| LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix. | |
| Haji-Seyed-Javadi R, Jelodari-Mamaghani S, Paylakhi SH, Yazdani S, Nilforushan N, Fan JB, Klotzle B, Mahmoudi MJ, Ebrahimian MJ, Chelich N, Taghiabadi E, Kamyab K, Boileau C, Paisan-Ruiz C, Ronaghi M, Elahi E. | |
| Hum Mutat 33(8):1182-7. doi: 10.1002/humu.22105. Epub 2012 May 29. 2012 | |
| 2 | LTBP2, WMS3 |
| LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma. | |
| Désir J, Sznajer Y, Depasse F, Roulez F, Schrooyen M, Meire F, Abramowicz M. | |
| Eur J Hum Genet 18(7):761-7. Epub 2010 Feb 24.PMID: 20179738 2010 | |