Congenital hereditary endothelial dystrophy with progressive sensorineural deafness (Harboyan syndrome)
Author:
Publisher
Springer Science and Business Media LLC
Subject
Pharmacology (medical),Genetics(clinical),General Medicine
Link
http://link.springer.com/content/pdf/10.1186/1750-1172-3-28.pdf
Reference43 articles.
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2. Aldave AJ, Sonmez B: Elucidating the molecular genetic basis of the corneal dystrophies are we there yet?. Arch Ophthalmol. 2007, 125: 177-186. 10.1001/archopht.125.2.177.
3. Toma NM, Ebenezer ND, Inglehearn CF, Plant C, Ficker LA, Bhattacharya SS: Linkage of congenital hereditary endothelial dystrophy to chromosome 20. Hum Mol Genet. 1995, 4: 2395-2398. 10.1093/hmg/4.12.2395.
4. Vithana EN, Morgan P, Sundaresan P, Ebenezer ND, Tan DT, Mohamed MD, Anand S, Khine KO, Venkataraman D, Yong VH, Salto-Tellez M, Venkatraman A, Guo K, Hemadevi B, Srinivasan M, Prajna V, Khine M, Casey JR, Inglehearn CF, Aung T: Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2). Nat Genet. 2006, 38: 755-757. 10.1038/ng1824.
5. Héon E, Greenberg A, Kopp KK, Rootman D, Vincent AL, Billingsley G, Priston M, Dorval KM, Chow RL, McInnes RR, Heathcote G, Westall C, Sutphin JE, Semina E, Bremner R, Stone EM: VSX1: a gene for posterior polymorphous dystrophy and keratoconus. Hum Mol Genet. 2002, 11: 1029-1036. 10.1093/hmg/11.9.1029.
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