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- Title
Genome sequencing identifies KMT2E‐disrupting cryptic structural variant in a female with O'Donnell‐Luria‐Rodan syndrome.
- Authors
Hashim, Mona; Stewart, Helen; Yu, Jing; Banos‐Pinero, Benito; Pagnamenta, Alistair T.; Taylor, Jenny C.
- Abstract
Genome sequencing identifies KMT2E-disrupting cryptic structural variant in a female with O'Donnell-Luria-Rodan syndrome Genome-sequencing, cryptic, structural variant, KMT2E Keywords: cryptic; genome-sequencing; KMT2E; structural variant EN cryptic genome-sequencing KMT2E structural variant 390 392 3 08/03/23 20230901 NES 230901 We describe a patient from the 100,000 Genomes Project with a complex I de novo i structural variant within KMT2E leading to O'Donnell-Luria-Rodan syndrome.
- Subjects
CONGENITAL hip dislocation; SYNDROMES; GENETIC variation; WHOLE genome sequencing; GENE libraries; BRUGADA syndrome; GENOMES
- Publication
Clinical Genetics, 2023, Vol 104, Issue 3, p390
- ISSN
0009-9163
- Publication type
Article
- DOI
10.1111/cge.14355