Biallelic CPAMD8 Variants Are a Frequent Cause of Childhood and Juvenile Open-Angle Glaucoma

Author:

Siggs Owen M.,Souzeau EmmanuelleORCID,Taranath Deepa A.,Dubowsky Andrew,Chappell AngelaORCID,Zhou Tiger,Javadiyan Shari,Nicholl Jillian,Kearns Lisa S.,Staffieri Sandra E.,Narita Andrew,Smith James E.H.,Pater John,Hewitt Alex W.,Ruddle Jonathan B.,Elder James E.,Mackey David A.,Burdon Kathryn P.,Craig Jamie E.

Funder

National Health and Medical Research Council

Publisher

Elsevier BV

Subject

Ophthalmology

Reference18 articles.

1. Axenfeld-Rieger syndrome: a theory of mechanism and distinctions from the iridocorneal endothelial syndrome;Shields;Trans Am Ophthalmol Soc,1983

2. Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variants;Souzeau;Eur J Hum Genet,2017

3. Congenital glaucoma and CYP1B1: an old story revisited;Alsaif;Hum Genet,2019

4. Prevalence of FOXC1 variants in individuals with a suspected diagnosis of primary congenital glaucoma;Siggs;JAMA Ophthalmol,2019

5. The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25;Nishimura;Nat Genet,1998

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