Kleefstra syndrome and sleep disorders: An Italian case report

• Yazar: Ettore Caterino (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: Journal of Neurology, Neurological Science and Disorders - Peertechz Publications, 2023-06-28.
• Konular: Case Report
• Online Erişim: Connect to this object online.

<p>Kleefstra Syndrome (KS)is a rare genetic syndrome affecting approximately 1 in 200,000 individuals and is caused by either a deletion of the subtelomeric region of chromosome 9q (50%) or by a loss of function mutation in the Euchromatin Histone Methyl Transferase 1 (EHMT1) gene (50%). In th...