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Article

Frameshift mutation hotspot identified in Smith-Magenis syndrome: case report and review of literature.

BMC medical genetics - 8 Oct 2010

Truong Hoa T, Dudding Tracy, Blanchard Christopher L, Elsea Sarah H

Abstract excerpt

Smith-Magenis syndrome (SMS) is a complex syndrome involving intellectual disabilities, sleep disturbance, behavioural problems, and a variety of craniofacial, skeletal, and visceral anomalies. While the majority of SMS cases harbor an ~3.5 Mb common deletion on 17p11.2 that encompasses the retinoic acid induced-1 (RAI1) gene, some patients carry small intragenic deletions or point mutations in RAI1. We present...

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Source

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Identifiers

PMID: 20932317
DOI: 10.1186/1471-2350-11-142
PMCID: PMC2964533

Genes

RAI1
SMS

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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