Smith-magenis syndrome: A rare case report
Rupam Sinha, Harshvardhan Jha, Debarati Deb and 1 more
Journal of Family Medicine and Primary Care · 2022
doi:10.4103/jfmpc.jfmpc_1279_21 (opens in a new tab)
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Abstract
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.
Abstract licence: CC BY-NC-SA
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