Genome sequencing identifies a large deletion at 13q32.1 as the cause of microcoria and childhood-onset glaucoma.
Manchester Royal Eye Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK.|Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK.|Centre for Ophthalmology & Vision Sciences, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK.
Panagiotis I
PI
Sergouniotis
Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK.
Jamie M
JM
Ellingford
Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK.
James
J
O'Sullivan
Manchester Royal Eye Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK.|Centre for Ophthalmology & Vision Sciences, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK.
Cecilia H
CH
Fenerty
Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK.|Centre for Ophthalmology & Vision Sciences, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK.
Graeme C
GC
Black
D000293:Adolescent; D000328:Adult; D002648:Child; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics*; D005136:Eye Proteins / Q000235:genetics* / Q000378:metabolism; D005260:Female; D005820:Genetic Testing / Q000379:methods*; D005838:Genotype; D005901:Glaucoma / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D008297:Male; D010375:Pedigree; D017354:Point Mutation; D011681:Pupil Disorders / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism; D055815:Young Adult
D005136:Eye Proteins