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Loss-of-Function CARS1 Variants in a Patient With Microcephaly, Developmental Delay, and a Brittle Hair Phenotype
- DEL GRECO, Christina - KUO, Molly E. - SMITH, Desiree E. C. - MENDES, Marisa I. - SALAMONS, Gaja S. - NEMČOVIČ, Marek - KODRÍKOVÁ, Rebeka - ŠESTÁK, Sergej** - STANCHEVA, Malina** - ANTONELIS, Anthony**. Loss-of-Function CARS1 Variants in a Patient With Microcephaly, Developmental Delay, and a Brittle Hair Phenotype. In Molecular Genetics & Genomic Medicine, 2025, vol. 13, e70078. ISSN 2324-9269. Dostupné na: https://doi.org/10.1002/mgg3.70078
Počet záznamov: 1