Loss‐of‐Function CARS1 Variants in a Patient With Microcephaly, Developmental Delay, and a Brittle Hair Phenotype

Loss‐of‐Function CARS1 Variants in a Patient With Microcephaly, Developmental Delay, and a Brittle Hair Phenotype

ABSTRACT Background Mutations in cysteinyl‐tRNA synthetase (CARS1) have been implicated in a multisystem disease including microcephaly, developmental delay, and brittle hair and nail phenotypes. Methods Here, we present a patient with hepatopathy, hypothyroidism, short stature, developmental delay,...

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Main Authors: Christina Del Greco, Molly E. Kuo, Desiree E. C. Smith, Marisa I. Mendes, Gajja S. Salamons, Marek Nemcovic, Rebeka Kodrikova, Sergej Sestak, Malina Stancheva, Anthony Antonellis
Format: Article
Language:English
Published: Wiley 2025-02-01
Series:Molecular Genetics & Genomic Medicine
Online Access:https://doi.org/10.1002/mgg3.70078
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https://doi.org/10.1002/mgg3.70078

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