Literature DB >> 25041233

Progressive microcephaly is caused by compound-heterozygous mutations in QARS.

S Waltl1.   

Abstract

Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures Zhang et al. (2014) The American Journal of Human Genetics;94(4):547-558.
© 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

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Year:  2014        PMID： 25041233     DOI： 10.1111/cge.12457

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  1 in total

1.  Severe growth deficiency, microcephaly, intellectual disability, and characteristic facial features are due to a homozygous QARS mutation.

Authors:  Esther Leshinsky-Silver; Jiqiang Ling; Jiang Wu; Chana Vinkler; Keren Yosovich; Sarit Bahar; Miri Yanoov-Sharav; Tally Lerman-Sagie; Dorit Lev
Journal:  Neurogenetics       Date:  2017-06-15       Impact factor: 2.660
  1 in total

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