Loss‐of‐Function <scp><i>CARS1</i></scp> Variants in a Patient With Microcephaly, Developmental Delay, and a Brittle Hair Phenotype
This study is the second report of pathogenic CARS1 variants and expands the allelic and phenotypic heterogeneity of CARS1-associated disease.
Authors
- Desirée E.C. Smith (ORCID: https://orcid.org/0000-0003-2053-3392)
- Marek Nemčovič (ORCID: https://orcid.org/0000-0002-1702-4952)
- Sergej Šesták (ORCID: https://orcid.org/0000-0002-3858-3518)
- Christina Del Greco (ORCID: https://orcid.org/0000-0002-2387-5067)
- Anthony Antonellis (ORCID: https://orcid.org/0000-0002-5820-3156)
- Rebeka Kodríková (ORCID: https://orcid.org/0000-0002-3342-3486)
- Molly E. Kuo (ORCID: https://orcid.org/0000-0002-1190-4115)
- M Stancheva (ORCID: https://orcid.org/0000-0002-9357-5836)
- Marisa I. Mendes (ORCID: https://orcid.org/0000-0002-6617-3698)
- Gajja S. Salamons
Institutions
- Institute of Chemistry of the Slovak Academy of Sciences (SK)
- Slovak Academy of Sciences (SK)
- University of Michigan (US)
- Amsterdam University Medical Centers (NL)
- University of Amsterdam (NL)
Publication Details
- Journal
- Molecular Genetics & Genomic Medicine
- Published
- 2025-02-01
- DOI
- https://doi.org/10.1002/mgg3.70078
- Citations
- 1
- Primary Topic
- RNA and protein synthesis mechanisms
- Type
- article
- Field-Weighted Citation Impact
- 0.81
Funders
- National Institutes of Health
- European Regional Development Fund
- National Institute of General Medical Sciences
- National Institute of Neurological Disorders and Stroke
- Eunice Kennedy Shriver National Institute of Child Health and Human Development