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Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucoma.
Am J Hum Genet. 2011 Sep 9;89(3):464-73. doi: 10.1016/j.ajhg.2011.08.005.
Am J Hum Genet. 2011.
PMID: 21907015
Free PMC article.
Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects.
Khan K, Logan CV, McKibbin M, Sheridan E, Elçioglu NH, Yenice O, Parry DA, Fernandez-Fuentes N, Abdelhamed ZI, Al-Maskari A, Poulter JA, Mohamed MD, Carr IM, Morgan JE, Jafri H, Raashid Y, Taylor GR, Johnson CA, Inglehearn CF, Toomes C, Ali M.
Khan K, et al. Among authors: abdelhamed zi.
Hum Mol Genet. 2012 Feb 15;21(4):776-83. doi: 10.1093/hmg/ddr509. Epub 2011 Nov 7.
Hum Mol Genet. 2012.
PMID: 22068589
Free PMC article.
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