Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism

BACKGROUND: Most mitochondrial and cytoplasmic aminoacyl-tRNA synthetases (aaRSs) are encoded by nuclear genes. Syndromic disorders resulting from mutation of aaRSs genes display significant phenotypic heterogeneity. We expand aaRSs-related phenotypes through characterization of the clinical and mol...

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Detalhes bibliográficos
Publicado no:Hum Genomics
Main Authors: Alsemari, Abdulaziz, Al-Younes, Banan, Goljan, Ewa, Jaroudi, Dyala, BinHumaid, Faisal, Meyer, Brian F., Arold, Stefan T., Monies, Dorota
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2017
Assuntos:
Primary Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5686820/
https://ncbi.nlm.nih.gov/pubmed/29137650
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40246-017-0124-4
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