Investigation of NRXN1 deletions: clinical and molecular characterization.

doi:10.1002/ajmg.a.35780

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Article

Investigation of NRXN1 deletions: clinical and molecular characterization.

American journal of medical genetics. Part A - 1 Apr 2013

Dabell Mindy Preston, Rosenfeld Jill A, Bader Patricia, Escobar Luis F, El-Khechen Dima, Vallee Stephanie E, Dinulos Mary Beth Palko, Curry Cynthia, Fisher Jamie, Tervo Raymond, Hannibal Mark C, Siefkas Kiana, Wyatt Philip R, Hughes Lauren, Smith Rosemarie, Ellingwood Sara, Lacassie Yves, Stroud Tracy, Farrell Sandra A, Sanchez-Lara Pedro A, Randolph Linda M, Niyazov Dmitriy, Stevens Cathy A, Schoonveld Cheri, Skidmore David, MacKay Sara, Miles Judith H, Moodley Manikum, Huillet Adam, Neill Nicholas J, Ellison Jay W, Ballif Blake C, Shaffer Lisa G

Abstract excerpt

Deletions at 2p16.3 involving exons of NRXN1 are associated with susceptibility for autism and schizophrenia, and similar deletions have been identified in individuals with developmental delay and dysmorphic features. We have identified 34 probands with exonic NRXN1 deletions following referral for clinical microarray-based comparative genomic hybridization. To more firmly establish the full phenotypic spectrum...

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Identifiers

PMID: 23495017
DOI: 10.1002/ajmg.a.35780

Genes

NRXN1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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