Associated Papers
Loss-of-Function CARS1 Variants in a Patient With Microcephaly, Developmental Delay, and a Brittle Hair Phenotype.
Del Greco C et al.
Molecular Genetics & Genomic Medicine, 2025
Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails.
Kuo ME et al.
American Journal of Human Genetics, 2019
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