A tandem duplication of exon 42 of the
DMD
gene is a likely benign variant
J Med Genet
.
2024 Dec 23:jmg-2024-110159.
doi: 10.1136/jmg-2024-110159.
Online ahead of print.
Authors
Jesse B G Hayesmoore
1
,
Ruth Newbury-Ecob
2
,
Sarah Durell
3
,
Amy Dillon
4
,
Farah Kanani
5
,
Fiona Beecroft
5
,
Joanna Jarvis
5
,
Deirdre Cilliers
6
,
Carl Fratter
7
Affiliations
1
Oxford Regional Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK
[email protected]
.
2
Department of Clinical Genetics, University Hospitals Bristol NHS Foundation Trust, Bristol, UK.
3
Department of Clinical Genetics, Northampton General Hospital NHS Trust, Northampton, UK.
4
University Hospital Southampton NHS Foundation Trust, Southampton, UK.
5
Clinical Genetics Department, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.
6
Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
7
Oxford Regional Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
PMID:
39715635
DOI:
10.1136/jmg-2024-110159
No abstract available
Keywords:
Genetic Testing; Genetic Variation; Neuromuscular Diseases.