Article

Novel <em>De Novo RAI1</em>:c.2736delC Variant Identified in A Child with Features of Smith-Magenis: Insight from Whole Genomes Joint Analysis

2024-07-26

Abstract excerpt

Smith-Magenis syndrome is a complex neurobehavioral genetic disorder. The spectrum of SMS phenotype is broad but commonly includes craniofacial, neurobehavioral, and otolaryngologic features. While the etiology of SMS is commonly attributed to one copy interstitial deletion in the 17p11.2 region (90-95% of cases), variants identified by sequence analysis in RAI1 have also been reported in 5-10% of cases. The pheno...

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Literature Corpus work: 3d02ffe5-c3af-531f-be6d-efcf491c5431
DOI: 10.20944/preprints202407.2052.v1

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