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Paper Details

Long-read genome sequencing resolves a complex 13q structural variant associated with syndromic anophthalmia.
Am J Med Genet A
3
2022
13q, DUP-TRP/INV-DUP, MAC, Microphthalmia, anomalous eye development and degeneration, anophthalmia, chromosome 13, chromosome 13q, coloboma, complex 13q structural variant, dosage-sensitive critical region, maternal chromosome, syndromic anophthalmia, syndromic degenerative anophthalmia
Author NameAffiliation
Cornelius F BoerkoelUniversity of British Columbia
Cornelius F BoerkoelWomen's Hospital of British Columbia
Cornelius F BoerkoelUniversity of British Columbia
Cornelius F BoerkoelWomen's Hospital of British Columbia
Steven J M JonesUniversity of British Columbia
Steven J M Jones
Steven J M JonesUniversity of British Columbia
Steven J M Jones
Hui-Lin ChinWomen's Hospital of British Columbia
Hui-Lin ChinKhoo Teck Puat-National University Children's Medical Institute, National University Hospital
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