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Article

A case of Smith-Magenis syndrome with skin manifestations caused by a novel locus mutation in the RAI1 gene.

The Journal of international medical research - 1 Sept 2023

Wu Xiaobin, Zhang Li, Chen Sisi, Li Yanxi

Abstract excerpt

We report the clinical features and genetic testing of a child with Smith-Magenis syndrome (SMS) to improve the understanding of this disease. The clinical data and molecular genetic test results of a child with SMS caused by a novel mutation in the retinoic acid-induced-1 (RAI1) gene were reviewed. A female patient aged 12 years and 9 months presented to the clinic because her mental and motor development was...

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Identifiers

PMID: 37756600
DOI: 10.1177/03000605231190553
PMCID: PMC10683568

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A case of Smith-Magenis syndrome with skin manifestations caused by a novel locus mutation in the RAI1 gene.PMID 37756600Read ↗

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