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

Clin Genet. 2017 Dec;92(6):671-673. doi: 10.1111/cge.13080. Epub 2017 Oct 19.

Authors

R Smigiel¹, M Biela¹, A Biernacka^{2

3}, A Stembalska⁴, M Sasiadek⁴, J Kosinska², M Rydzanicz², R Ploski²

Affiliations

¹ Department of Pediatrics and Rare Disorders, Wroclaw Medical University, Wroclaw, Poland.
² Department of Medical Genetics, Warsaw Medical University, Warsaw, Poland.
³ Postgraduate School of Molecular Medicine, Warsaw Medical University, Warsaw, Poland.
⁴ Department of Genetics, Wroclaw Medical University, Wroclaw, Poland.

PMID: 29052218
DOI: 10.1111/cge.13080

No abstract available

Publication types

Letter

MeSH terms

Adult
Child
Child, Preschool
Female
Genes, Recessive / genetics
Genetic Predisposition to Disease
Humans
Intellectual Disability / genetics*
Intellectual Disability / pathology
Isoleucine-tRNA Ligase / genetics*
Liver Diseases / genetics*
Liver Diseases / pathology
Male
Muscle Hypotonia / genetics*
Muscle Hypotonia / pathology
Mutation / genetics

Substances

Isoleucine-tRNA Ligase