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Smith-Magenis Syndrome—Clinical Review, Biological Background and Related Disorders

11 Feb 2022

Abstract excerpt

Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by distinctive physical features, developmental delay, cognitive impairment, and a typical behavioral phenotype. SMS is caused by interstitial 17p11.2 deletions (90%), encompassing multiple genes and including the retinoic acid-induced 1 gene (RAI1), or by pathogenic variants in RAI1 itself (10%). RAI1 is a dosage-sensitive gene expressed in...

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PMID: 35205380
DOI: 10.3390/genes13020335

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