Similarity of Phenotype in Three Male Patients With the c.<scp>320A</scp>>G Variant in <i>ALG13</i>: Possible Genotype–Phenotype Correlation
The similarity of phenotype in the three males with the c.320A>G variant in ALG13, suggests a possible genotype-phenotype correlation.
Authors
- Gianpiero L. Cavalleri (ORCID: https://orcid.org/0000-0002-9802-0506)
- Katherine A. Benson (ORCID: https://orcid.org/0000-0003-3529-315X)
- Rebecca Finnegan (ORCID: https://orcid.org/0000-0002-1264-5004)
- Marie T. Greally
- Máire White
- Mary O’Regan
- Norman Delanty (ORCID: https://orcid.org/0000-0002-3953-9842)
Institutions
- Royal College of Surgeons in Ireland (IE)
- Beaumont Hospital (IE)
- Children's Health Ireland at Crumlin (IE)
Publication Details
- Journal
- Molecular Genetics & Genomic Medicine
- Published
- 2024-09-01
- DOI
- https://doi.org/10.1002/mgg3.70010
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Science Foundation Ireland
- European Regional Development Fund