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Loss of function mutations in the gene encoding latent transforming growth factor beta binding protein 2, LTBP2, cause primary congenital glaucoma.
Narooie-Nejad M, Paylakhi SH, Shojaee S, Fazlali Z, Rezaei Kanavi M, Nilforushan N, Yazdani S, Babrzadeh F, Suri F, Ronaghi M, Elahi E, Paisán-Ruiz C. Narooie-Nejad M, et al. Among authors: paylakhi sh. Hum Mol Genet. 2009 Oct 15;18(20):3969-77. doi: 10.1093/hmg/ddp338. Epub 2009 Aug 4. Hum Mol Genet. 2009. PMID: 19656777
Screening for MIR184 Mutations in Iranian Patients with Keratoconus.
Farzadfard A, Nassiri N, Moghadam TN, Paylakhi SH, Elahi E. Farzadfard A, et al. Among authors: paylakhi sh. J Ophthalmic Vis Res. 2016 Jan-Mar;11(1):3-7. doi: 10.4103/2008-322X.180715. J Ophthalmic Vis Res. 2016. PMID: 27195078 Free PMC article.
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. Haji-Seyed-Javadi R, et al. Among authors: paylakhi sh. Hum Mutat. 2012 Aug;33(8):1182-7. doi: 10.1002/humu.22105. Epub 2012 May 29. Hum Mutat. 2012. PMID: 22539340
19 results