Article
Bi-allelic IARS mutations in a child with intra-uterine growth retardation, neonatal cholestasis, and mild developmental delay.
Clinical genetics - 1 Jun 2017
Orenstein N, Weiss K, Oprescu S N, Shapira R, Kidron D, Vanagaite-Basel L, Antonellis A, Muenke M
Abstract excerpt
Recently, bi-allelic mutations in cytosolic isoleucyl-tRNA synthetase (IARS) have been described in three individuals with growth delay, hepatic dysfunction, and neurodevelopmental disabilities. Here we report an additional subject with this condition identified by whole-exome sequencing. Our findings support the association between this disorder and neonatal cholestasis with distinct liver pathology....
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