Smith-Magenis syndrome: Clinical and behavioral characteristics in a large retrospective cohort.

doi:10.1111/cge.13906

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Article

Smith-Magenis syndrome: Clinical and behavioral characteristics in a large retrospective cohort.

Clinical genetics - 1 Apr 2021

Rive Le Gouard Nicolas, Jacquinet Adeline, Ruaud Lyse, Deleersnyder Hélène, Ageorges Faustine, Gallard Jennifer, Lacombe Didier, Odent Sylvie, Mikaty Myriam, Manouvrier-Hanu Sylvie, Ghoumid Jamal, Geneviève David, Lehman Natacha, Philip Nicole, Edery Patrick, Héron Delphine, Rastel Coralie, Chancenotte Sophie, Thauvin-Robinet Christel, Faivre Laurence, Perrin Laurence, Verloes Alain

Abstract excerpt

Smith-Magenis syndrome (SMS), characterized by dysmorphic features, neurodevelopmental disorder, and sleep disturbance, is due to an interstitial deletion of chromosome 17p11.2 (90%) or to point mutations in the RAI1 gene. In this retrospective cohort, we studied the clinical, cognitive, and behavioral profile of 47 European patients with SMS caused by a 17p11.2 deletion. We update the clinical and...

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PMID: 33368193
DOI: 10.1111/cge.13906

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