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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 report
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  • Edgar Andrés Chavarría-Martínez,
  • Julen Arellano-Sandúa,
  • Ruth Arias-Hidalgo,
  • Ana Patiño-Garcia,
  • Adrián Cano-Prous
Edgar Andrés Chavarría-Martínez
Clinica Universidad de Navarra

Corresponding Author:[email protected]

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Julen Arellano-Sandúa
Clinica Universidad de Navarra
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Ruth Arias-Hidalgo
Clinica Universidad de Navarra
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Ana Patiño-Garcia
Clinica Universidad de Navarra
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Adrián Cano-Prous
Clinica Universidad de Navarra
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Abstract

Smith-Magenis Syndrome (SMS) is an uncommon genetic disorder caused by microdeletions of chromosome 17p11.2 including the RAI1 gene, or loss-of-function mutations that directly affect RAI1. Due to the involvement of RAI1 in neurodevelopment, SMS leads to typical pathologic features in the behavioral and physical phenotype that must be recognized by clinicians

Peer review status:UNDER REVIEW

26 Aug 2024Submitted to Clinical Case Reports
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26 Sep 2024Submission Checks Completed
26 Sep 2024Assigned to Editor
27 Sep 2024Reviewer(s) Assigned