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Article

Clinical phenotype and candidate genes for the 5q31.3 microdeletion syndrome.

American journal of medical genetics. Part A - 1 Aug 2012

Hosoki Kana, Ohta Tohru, Natsume Jun, Imai Sumiko, Okumura Akihisa, Matsui Takeshi, Harada Naoki, Bacino Carlos A, Scaglia Fernando, Jones Jeremy Y, Niikawa Norio, Saitoh Shinji

Abstract excerpt

Array-based technologies have led to the identification of many novel microdeletion and microduplication syndromes demonstrating multiple congenital anomalies and intellectual disability (MCA/ID). We have used chromosomal microarray analysis for the evaluation of patients with MCA/ID and/or neonatal hypotonia. Three overlapping de novo microdeletions at 5q31.3 with the shortest region of overlap (SRO) of 370 kb...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22711443
DOI: 10.1002/ajmg.a.35439

Genes

NRG2

Provenance

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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