Smith-magenis syndrome: A rare case report.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 35495804.
- Also identified by DOI 10.4103/jfmpc.jfmpc_1279_21 and PMC identifier 9051676.
- Licence recorded as CC BY-NC-SA.
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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.