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Article

Smith-Magenis syndrome and growth hormone deficiency.

European journal of pediatrics - 1 Jul 2004

Spadoni Emanuela, Colapietro Patrizia, Bozzola Mauro, Marseglia Gian L, Repossi Luciana, Danesino Cesare, Larizza Lidia, Maraschio Paola

Abstract excerpt

UNLABELLED: Smith-Magenis syndrome (SMS) is a multiple congenital anomaly/mental retardation syndrome including physical and neurobehavioural features. The disease is commonly associated with a ca. 3.7 Mb interstitial deletion of chromosome 17p11.2, while a 1.1 Mb critical region has been identified, containing about 20 genes expressed in multiple tissues. Haploinsufficiency of one of them, RAI1, seems to be...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15138811
DOI: 10.1007/s00431-004-1460-7

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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Smith-Magenis syndrome and growth hormone deficiency.PMID 15138811Read ↗

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