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Article

[Smith-Magenis syndrome is an association of behavioral and sleep/wake circadian rhythm disorders].

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie - 1 Jun 2015

Poisson A, Nicolas A, Sanlaville D, Cochat P, De Leersnyder H, Rigard C, Franco P, des Portes V, Edery P, Demily C

Abstract excerpt

Smith-Magenis syndrome (SMS) is a genetic disorder characterized by the association of facial dysmorphism, oral speech delay, as well as behavioral and sleep/wake circadian rhythm disorders. Most SMS cases (90%) are due to a 17p11.2 deletion encompassing the RAI1 gene; other cases stem from mutat...

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Source

Identifiers

PMID: 25934608
DOI: 10.1016/j.arcped.2015.03.015

Genes

SMS
RAI1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25934608-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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