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Article

Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jul 2006

Girirajan Santhosh, Vlangos Christopher N, Szomju Barbara B, Edelman Emily, Trevors Christopher D, Dupuis Lucie, Nezarati Marjan, Bunyan David J, Elsea Sarah H

Abstract excerpt

PURPOSE: Smith-Magenis syndrome (SMS) is a complex disorder that includes mental retardation, craniofacial and skeletal anomalies, and behavioral abnormalities. We report the molecular and genotype-phenotype analyses of 31 patients with SMS who carry 17p11.2 deletions or mutations in the RAI1 gene. METHODS: Patients with SMS were evaluated by fluorescence in situ hybridization and/or sequencing of RAI1 to...

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Share to Abnormalities, Multiple
Share to Chromosomes, Human, Pair 17

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 16845274
DOI: 10.1097/01.gim.0000228215.32110.89

Genes

RAI1
SMS

Provenance

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Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum.PMID 16845274Read ↗

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