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Article

Smith-Magenis syndrome and its circadian influence on development, behavior, and obesity - own experience.

Developmental period medicine - 1 Jan 2000

Chen Li, Mullegama Sureni V, Alaimo Joseph T, Elsea Sarah H

Abstract excerpt

Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by sleep disturbance, multiple developmental anomalies, psychiatric behavior, and obesity. It is caused by a heterozygous 17p11.2 microdeletion containing the retinoic acid-induced 1 (RAI1) gene or mutation within RAI1. Sleep disorder is one of the most penetrant features of SMS. Molecular genetic studies indicate that RAI1 regulates...

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Source

Identifiers

PMID: 26384114

Genes

SMS
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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