Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions.

doi:10.1038/ejhg.2012.95

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Article

Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions.

European journal of human genetics : EJHG - 1 Dec 2012

Schaaf Christian P, Boone Philip M, Sampath Srirangan, Williams Charles, Bader Patricia I, Mueller Jennifer M, Shchelochkov Oleg A, Brown Chester W, Crawford Heather P, Phalen James A, Tartaglia Nicole R, Evans Patricia, Campbell William M, Tsai Anne Chun-Hui, Parsley Lea, Grayson Stephanie W, Scheuerle Angela, Luzzi Carol D, Thomas Sandra K, Eng Patricia A, Kang Sung-Hae L, Patel Ankita, Stankiewicz Pawel, Cheung Sau W

Abstract excerpt

Copy number variants (CNVs) and intragenic rearrangements of the NRXN1 (neurexin 1) gene are associated with a wide spectrum of developmental and neuropsychiatric disorders, including intellectual disability, speech delay, autism spectrum disorders (ASDs), hypotonia and schizophrenia. We performed a detailed clinical and molecular characterization of 24 patients who underwent clinical microarray analysis and had...

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Identifiers

PMID: 22617343
DOI: 10.1038/ejhg.2012.95
PMCID: PMC3499754

Genes

NRXN1

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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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