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Article

Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases.

Clinical genetics - 1 Jun 2007

Edelman E A, Girirajan S, Finucane B, Patel P I, Lupski J R, Smith A C M, Elsea S H

Abstract excerpt

Smith-Magenis syndrome (SMS) is a multisystem disorder characterized by developmental delay and mental retardation, a distinctive behavioral phenotype, and sleep disturbance. We undertook a comprehensive meta-analysis to identify genotype-phenotype relationships to further understand the clinical variability and genetic factors involved in SMS. Clinical and molecular information on 105 patients with SMS was...

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Source

Identifiers

PMID: 17539903
DOI: 10.1111/j.1399-0004.2007.00815.x

Genes

SMS
MFAP4
RAI1

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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