ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum.

doi:10.1038/s41431-021-00985-9

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Article

ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum.

European journal of human genetics : EJHG - 1 Jan 2022

Bruel Ange-Line, Vitobello Antonio, Thiffault Isabelle, Manwaring Linda, Willing Marcia, Agrawal Pankaj B, Bayat Allan, Kitzler Thomas M, Brownstein Catherine A, Genetti Casie A, Gonzalez-Heydrich Joseph, Jayakar Parul, Zyskind Jacob W, Zhu Zehua, Vachet Clemence, Wilson Gena R, Pruniski Brianna, Goyette Anne-Marie, Duffourd Yannis, Thauvin-Robinet Christel, Philippe Christophe, Faivre Laurence

Abstract excerpt

ITSN1 plays an important role in brain development. Recent studies in large cohorts of subjects with neurodevelopmental disorders have identified de novo variants in ITSN1 gene thereby suggesting that this gene is involved in the development of such disorders. The aim of this study is to provide further proof of such a link. We performed trio exome sequencing in a patient presenting autism, intellectual...

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Identifiers

PMID: 34707297
DOI: 10.1038/s41431-021-00985-9
PMCID: PMC8738743

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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