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Article

Smith-Magenis syndrome: a new contiguous gene syndrome. Report of three new cases.

Journal of medical genetics - 1 Sept 1991

Moncla A, Livet M O, Auger M, Mattei J F, Mattei M G, Giraud F

Abstract excerpt

Interstitial deletion of the short arm of chromosome 17 was detected in three patients. They all had a similar phenotype with mental retardation, behavioural problems, facial dysmorphism, brachycephaly, a broad face with a flat midface, and short and broad hands. All three cases were ascertained over a six month period by two neuropaediatricians aware of this specific anomaly, which suggests that this...

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Source

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Identifiers

PMID: 1956064
DOI: 10.1136/jmg.28.9.627
PMCID: PMC1015796

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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