Absence of CHRDL1 and FOXC1 sequence changes in two brothers with Megalocornea-Mental Retardation Syndrome
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Peertechz Publications Private Limited
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https://www.peertechzpublications.com/articles/JNNSD-3-117.pdf
Reference40 articles.
1. 1. Webb TR, Matarin M, Gardner JC, Kelberman D, Hassan H, et al. (2012) X linked megalocornea caused by mutations in CHRDL1 identifies an essential role for ventroptin in anterior segment development. American journal of human genetics 90: 247-259. Link: https://goo.gl/7KKT9i
2. 2. Han J, Young JW, Frausto RF, Isenberg SJ, Aldave AJ (2015) X linked Megalocornea Associated with the Novel CHRDL1 Gene Mutation p.(Pro56Leu*8). Ophthalmic Genet 36:145-148. Link: https://goo.gl/ojz7Cv
3. 3. Davidson AE, Cheong SS, Hysi PG, Venturini C, Plagnol V, et al. (2014) Association of CHRDL1 mutations and variants with X-linked megalocornea, Neuhäuser syndrome and central corneal thickness. PLoS One. 9: e104163. Link: https://goo.gl/QN3LHq
4. 4. Gao WL, Zhang SQ, Zhang H, Wan B, Yin ZS (2013) Chordin-like protein 1. Mol Med Rep 7:1143-1148. doi: 10.3892/mmr.2013.1310. Link: https://goo.gl/G4afjc
5. 5. Del Giudice E, Sartorio R, Romano A, Carrozzo R, Andria G (1987) Megalocornea and mental retardation syndrome: two new cases. Am J Med Genet 26: 417-420. Link: https://goo.gl/xHZchs
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