Smith-magenis syndrome: A rare case report

oleh: Rupam Sinha, Harshvardhan Jha, Debarati Deb, Mainak Datta

Format: Article
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.