Smith-magenis syndrome: A rare case report

Smith-Magenis syndrome is a rare genetic disorder involving multiple body systems, along with mental retardation and sleep disturbances. It is attributed to micro deletion at 17p11.2 chromosome region encoding for RAI1 gene. This article presents a case report of a 7-year-old patient having this rar...

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Detalles Bibliográficos
Autores principales: Sinha, Rupam, Jha, Harshvardhan, Deb, Debarati, Datta, Mainak
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9051676/
https://www.ncbi.nlm.nih.gov/pubmed/35495804
http://dx.doi.org/10.4103/jfmpc.jfmpc_1279_21
Descripción
Sumario:Smith-Magenis syndrome is a rare genetic disorder involving multiple body systems, along with mental retardation and sleep disturbances. It is attributed to micro deletion at 17p11.2 chromosome region encoding for RAI1 gene. This article presents a case report of a 7-year-old patient having this rare syndrome along with his genetic analysis.

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