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Article

[Smith-Magenis syndrome: a report of two new cases and an approximation to their characteristic behavioural phenotype].

Revista de neurologia - 1 Jan 2000

Blanco-Barca O, Gallego-Blanco M, Ruiz-Ponte C, Barros-Angueira F, Esquete-López C, Eirís-Puñal J, Castro-Gago M

Abstract excerpt

INTRODUCTION: Smith-Magenis syndrome (SMS) is a well defined contiguous gene syndrome that is caused by an interstitial deletion in the 17p11.2 region. It is characterised by the presentation of characteristic facial features, brachydactylia, short stature, varying degrees of mental retardation, occasional neuropathy and a specific behavioural phenotype that points to this entity. AIMS: Our aim was to report the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15202082

Genes

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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