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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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
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author Sinha, Rupam
Jha, Harshvardhan
Deb, Debarati
Datta, Mainak
author_facet Sinha, Rupam
Jha, Harshvardhan
Deb, Debarati
Datta, Mainak
author_sort Sinha, Rupam
collection PubMed
description 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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spelling pubmed-90516762022-04-30 Smith-magenis syndrome: A rare case report Sinha, Rupam Jha, Harshvardhan Deb, Debarati Datta, Mainak J Family Med Prim Care 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 rare syndrome along with his genetic analysis. Wolters Kluwer - Medknow 2022-03 2022-03-10 /pmc/articles/PMC9051676/ /pubmed/35495804 http://dx.doi.org/10.4103/jfmpc.jfmpc_1279_21 Text en Copyright: © 2022 Journal of Family Medicine and Primary Care https://creativecommons.org/licenses/by-nc-sa/4.0/This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms.
spellingShingle Case Report
Sinha, Rupam
Jha, Harshvardhan
Deb, Debarati
Datta, Mainak
Smith-magenis syndrome: A rare case report
title Smith-magenis syndrome: A rare case report
title_full Smith-magenis syndrome: A rare case report
title_fullStr Smith-magenis syndrome: A rare case report
title_full_unstemmed Smith-magenis syndrome: A rare case report
title_short Smith-magenis syndrome: A rare case report
title_sort smith-magenis syndrome: a rare case report
topic Case Report
url 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
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AT debdebarati smithmagenissyndromeararecasereport
AT dattamainak smithmagenissyndromeararecasereport

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