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Paper Details

Revealing hidden genetic diagnoses in the ocular anterior segment disorders.
Genet Med
26
2020
ADAMTS17, ADAMTS17 variant, ASD, ASD genes, ASDs, Axenfeld-Rieger anomaly, COL4A1, CPAMD8, CYP1B1, FOXC1, FOXE3, GJA8, ITPR1, PAX6, PITX2, PXDN, anterior segment disorders, chromosome, disease genes, familial ASD, heterozygous variants, ocular anterior segment disorders
Author NameAffiliation
Mark J CowleyKinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research
Mark J CowleyChildren's Cancer Institute, Lowy Cancer Research Centre, University of New South Wales
Mark J CowleySt Vincent's Clinical School
Edmund C JenkinsThe Children's Hospital at Westmead
Marcel E DingerKinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research
Marcel E Dinger
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Release 1.2