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Article

RAI1 point mutations, CAG repeat variation, and SNP analysis in non-deletion Smith-Magenis syndrome.

American journal of medical genetics. Part A - 15 Nov 2006

Bi Weimin, Saifi G Mustafa, Girirajan Santhosh, Shi Xin, Szomju Barbara, Firth Helen, Magenis R Ellen, Potocki Lorraine, Elsea Sarah H, Lupski James R

Abstract excerpt

Smith-Magenis syndrome (SMS) is a multiple congenital anomalies/mental retardation disorder characterized by distinct craniofacial features and neurobehavioral abnormalities usually associated with an interstitial deletion in 17p11.2. Heterozygous point mutations in the retinoic acid induced 1 gene (RAI1) have been reported in nine SMS patients without a deletion detectable by fluorescent in situ hybridization...

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Source

Identifiers

PMID: 17041942
DOI: 10.1002/ajmg.a.31510

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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RAI1 point mutations, CAG repeat variation, and SNP analysis in non-deletion Smith-Magenis syndrome.PMID 17041942Read ↗

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