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Article

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

PloS one - 1 Jan 2011

Vilboux Thierry, Ciccone Carla, Blancato Jan K, Cox Gerald F, Deshpande Charu, Introne Wendy J, Gahl William A, Smith Ann C M, Huizing Marjan

Abstract excerpt

Smith-Magenis syndrome (SMS) is a complex neurobehavioral disorder characterized by multiple congenital anomalies. The syndrome is primarily ascribed to a ∼3.7 Mb de novo deletion on chromosome 17p11.2. Haploinsufficiency of multiple genes likely underlies the complex clinical phenotype. RAI1 (Retinoic Acid Induced 1) is recognized as a major gene involved in the SMS phenotype. Extensive genetic and clinical...

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Source

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Identifiers

PMID: 21857958
DOI: 10.1371/journal.pone.0022861
PMCID: PMC3152558

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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Molecular analysis of the Retinoic Acid Induced 1 gene (RAI1) in patients with suspected Smith-Magenis syndrome without the 17p11.2 deletion.PMID 21857958Read ↗

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