Literature DB >> 29052218

New evidence for association of recessive IARS gene mutations with hepatopathy, hypotonia, intellectual disability and growth retardation.

R Smigiel1, M Biela1, A Biernacka2,3, A Stembalska4, M Sasiadek4, J Kosinska2, M Rydzanicz2, R Ploski2.   

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Year:  2017        PMID： 29052218     DOI： 10.1111/cge.13080

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


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  3 in total

1.  Compound heterozygous variations in IARS1 cause recurrent liver failure and growth retardation in a Chinese patient: a case report.

Authors:  Ting-Ting Zou; Hua-Qin Sun; Yu Zhu; Tian-Tian He; Wen-Wu Ling; Hong-Mei Zhu; Zi-Yuan Lin; Yan-Yan Liu; Shan-Ling Liu; He Wang; Xue-Mei Zhang
Journal:  BMC Pediatr       Date:  2022-06-07       Impact factor: 2.567

2.  Identification of 11 potentially relevant gene mutations involved in growth retardation, intellectual disability, joint contracture, and hepatopathy.

Authors:  Hongyan Diao; Peng Zhu; Yong Dai; Wenbiao Chen
Journal:  Medicine (Baltimore)       Date:  2018-11       Impact factor: 1.817

3.  Refractory very early-onset inflammatory bowel disease associated with cytosolic isoleucyl-tRNA synthetase deficiency: A case report.

Authors:  Andrew Fagbemi; William G Newman; Stuart G Tangye; Stephen M Hughes; Edmund Cheesman; Peter D Arkwright
Journal:  World J Gastroenterol       Date:  2020-04-21       Impact factor: 5.742
  3 in total

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