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

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

Abstract 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...

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Bibliographic Details
Main Authors: Abdulaziz Alsemari, Banan Al-Younes, Ewa Goljan, Dyala Jaroudi, Faisal BinHumaid, Brian F. Meyer, Stefan T. Arold, Dorota Monies
Format: Article
Language:English
Published: BMC 2017-11-01
Series:Human Genomics
Subjects:
Syndromic
Angelman
Mitochondrial
Dysmorphism
Hypogonadism
Vitamin D deficiency
Online Access:http://link.springer.com/article/10.1186/s40246-017-0124-4

Internet

http://link.springer.com/article/10.1186/s40246-017-0124-4

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