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Article

Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposis.

Journal of medical genetics - 1 Nov 2013

Edvardson Simon, Ashikov Angel, Jalas Chaim, Sturiale Luisa, Shaag Avraham, Fedick Anastasia, Treff Nathan R, Garozzo Domenico, Gerardy-Schahn Rita, Elpeleg Orly

Abstract excerpt

BACKGROUND: The heritability of autism spectrum disorder is currently estimated at 55%. Identification of the molecular basis of patients with syndromic autism extends our understanding of the pathogenesis of autism in general. The objective of this study was to find the gene mutated in eight patients from a large kindred, who suffered from autism spectrum disorder, arthrogryposis and epilepsy. METHODS AND...

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Identifiers

PMID: 24031089
DOI: 10.1136/jmedgenet-2013-101753

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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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