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[Diagnostic difficulties in Smith-Magenis Syndrome (SMS) on the basis of own experience and literature data].

Medycyna wieku rozwojowego - 1 Jan 2000

Stembalska Agnieszka, Jakubiak Aleksandra, Śmigiel Robert

Abstract excerpt

The Smith-Magenis syndrome (SMS) is a rare microdeletion dysmorphic syndrome (interstitial microdeletion of chromosome 17p11.2), which occurs sporadically. Mutations in the RAI1 gene are found in part of the patients. SMS is characterized by intellectual disability and behavioural disturbances (s...

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Source

Identifiers

PMID: 22971658

Genes

SMS
RAI1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22971658-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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[Diagnostic difficulties in Smith-Magenis Syndrome (SMS) on the basis of own experience and literature data].PMID 22971658Read ↗

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Delayed diagnosis in a house of correction: Smith-Magenis syndrome due to a de novo nonsense RAI1 variant.Semantic proximity Read ↗

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Behavioral phenotype and neuropsychological profile of an adult with Smith-Magenis Syndrome due to a previously unreported RAI1 mutation: A case reportSemantic proximity Read ↗

Behavioral phenotype of Smith-Magenis syndrome (del 17p11.2).Semantic proximity Read ↗

Smith-Magenis Syndrome—Clinical Review, Biological Background and Related DisordersSemantic proximity Read ↗

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