Article
Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Nov 2020
Lenz Dominic, Smith Desirée E C, Crushell Ellen, Husain Ralf A, Salomons Gajja S, Alhaddad Bader, Bernstein Jonathan A, Bianzano Alyssa, Biskup Saskia, Brennenstuhl Heiko, Caldari Dominique, Dikow Nicola, Haack Tobias B, Hanson-Kahn Andrea, Harting Inga, Horn Denise, Hughes Joanne, Huijberts Maya, Isidor Bertrand, Kathemann Simone, Kopajtich Robert, Kotzaeridou Urania, Küry Sébastien, Lainka Elke, Laugwitz Lucia, Lupski James R, Posey Jennifer E, Reynolds Claire, Rosenfeld Jill A, Schröter Julian, Vansenne Fleur, Wagner Matias, Weiß Claudia, Wolffenbuttel Bruce H R, Wortmann Saskia B, Kölker Stefan, Hoffmann Georg F, Prokisch Holger, Mendes Marisa I, Staufner Christian
Abstract excerpt
PURPOSE: Biallelic variants in LARS1, coding for the cytosolic leucyl-tRNA synthetase, cause infantile liver failure syndrome 1 (ILFS1). Since its description in 2012, there has been no systematic analysis of the clinical spectrum and genetic findings. METHODS: Individuals with biallelic variants in LARS1 were included through an international, multicenter collaboration including novel and previously published...
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