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Article

Overlapping hearing and communication profiles for the deletion and the RAI1 variant form of Smith-Magenis Syndrome (SMS).

Journal of communication disorders - 1 Jan 2000

Brennan Christine, Baiduc Rachael R

Abstract excerpt

Smith-Magenis syndrome (SMS), a rare, genetically linked complex developmental disorder is associated with hearing loss and delays in speech-language development. Approximately 70 % of those with SMS have a genetic deletion within chromosome 17p11.2 and 10 % have a single gene mutation in the same area, known as the RAI1 variant form of SMS. Previous studies presented preliminary comparisons of the phenotype of...

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PMID: 39213791
DOI: 10.1016/j.jcomdis.2024.106455

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