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Article

Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)].

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2000

Potocki Lorraine, Shaw Christine J, Stankiewicz Pawel, Lupski James R

Abstract excerpt

PURPOSE: This report delineates the phenotypic features in a cohort of 58 individuals with Smith-Magenis syndrome (SMS) and compares features of patients with the common microdeletion to those of patients with variable sized deletions, and the three previously reported patients who harbor a mutation in RAI1 (retinoic acid induced 1). METHODS: From December 1990 thru September 1999, 58 persons with SMS were...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 14614393
DOI: 10.1097/01.gim.0000095625.14160.ab

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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