Mutations in LOXHD1, a Recessive-Deafness Locus, Cause Dominant Late-Onset Fuchs Corneal Dystrophy-Reference-Cited by-同舟云学术

Mutations in LOXHD1, a Recessive-Deafness Locus, Cause Dominant Late-Onset Fuchs Corneal Dystrophy

Published:2012-03 Issue:3 Volume:90 Page:533-539
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Riazuddin S. Amer,Parker David S.,McGlumphy Elyse J.,Oh Edwin C.,Iliff Benjamin W.,Schmedt Thore,Jurkunas Ula,Schleif Robert,Katsanis Nicholas,Gottsch John D.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference27 articles.

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2. Fuchs' dystrophy;Wilson;Cornea,1988

3. The molecular genetics of the corneal dystrophies—current status;Klintworth;Front. Biosci.,2003

4. Central cornea guttata. Incidence in the general population;Lorenzetti;Am. J. Ophthalmol.,1967

5. Clinical profile and early surgical complications in the Cornea Donor Study;Mannis;Cornea,2006

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5. Transcriptomic meta-analysis reveals ERRα-mediated oxidative phosphorylation is downregulated in Fuchs’ endothelial corneal dystrophy;PLOS ONE;2023-12-14