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Smith-magenis syndrome: A rare case report
oleh: Rupam Sinha, Harshvardhan Jha, Debarati Deb, Mainak Datta
Format: | Article |
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Diterbitkan: | Wolters Kluwer Medknow Publications 2022-01-01 |
Deskripsi
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.