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Article

RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions.

Journal of medical genetics - 1 Nov 2005

Girirajan S, Elsas L J, Devriendt K, Elsea S H

Abstract excerpt

BACKGROUND: Smith-Magenis syndrome (SMS) (OMIM No 182290) is a mental retardation syndrome characterised by behavioural abnormalities, including self injurious behaviours, sleep disturbance, and distinct craniofacial and skeletal anomalies. It is usually associated with deletion involving 17p11.2...

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Source

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Identifiers

PMID: 15788730
DOI: 10.1136/jmg.2005.031211
PMCID: PMC1735950

Genes

RAI1
SMS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-15788730-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions.PMID 15788730Read ↗

Molecular analysis of the Retinoic Acid Induced 1 gene (RAI1) in patients with suspected Smith-Magenis syndrome without the 17p11.2 deletion.Semantic proximity Read ↗

Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith-Magenis syndrome.Semantic proximity Read ↗

Smith-Magenis Syndrome—Clinical Review, Biological Background and Related DisordersSemantic proximity Read ↗

Mutations in RAI1 associated with Smith-Magenis syndrome.Semantic proximity Read ↗

Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome.Semantic proximity Read ↗

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

First evidence of Smith-Magenis syndrome in mother and daughter due to a novel RAI mutation.Semantic proximity Read ↗

Array comparative genomic hybridisation of 52 subjects with a Smith-Magenis-like phenotype: identification of dosage sensitive loci also associated with schizophrenia, autism, and developmental delay.Semantic proximity Read ↗

Novel <em>De Novo RAI1</em>:c.2736delC Variant Identified in A Child with Features of Smith-Magenis: Insight from Whole Genomes Joint AnalysisSemantic proximity Read ↗

A de novo mutation (p.S1419F) of Retinoic acid induced 1 is responsible for a patient with Smith-Magenis syndrome exhibiting schizophrenia.Semantic proximity Read ↗

Intellectual and Behavioral Phenotypes of Smith-Magenis Syndrome: Comparisons between Individuals with a 17p11.2 Deletion and Pathogenic RAI1 Variant.Semantic proximity Read ↗

Neurodevelopmental Disorders Associated with Abnormal Gene Dosage: Smith–Magenis and Potocki–Lupski SyndromesSemantic proximity Read ↗

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