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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...
Autores principales: | Sinha, Rupam, Jha, Harshvardhan, Deb, Debarati, Datta, Mainak |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer - Medknow
2022
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Materias: | |
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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