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Clinical Features of the Smith-Magenis Syndrome Associated with a RAI1 Mutation

Specialty:

Genetics

Objective:

ICD-10:

Description:

Elsea and Girirajan reported the clinical features of a patient with the Smith-Magenis Syndrome (SMS) associated with mutation in the retinoic acid-induced 1 (RAI-1) gene. These were summarized from several previous reports. The authors are from the Medical College of Virginia.

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