A Korean Child with Schaaf-Yang Syndrome Presented with Hearing Impairment: A Case Report

• Asıl Yazarlar: Seung Hoon Lee (Yazar), Seung Han Shin (Yazar), Jung Min Ko (Yazar), Boram Kim (Yazar), Hyeon Sae Oh (Yazar), Man Jin Kim (Yazar), Seul Gi Park (Yazar), Ee-Kyung Kim (Yazar), Han-Suk Kim (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: Korean Society of Neonatology, 2022-08-01T00:00:00Z.
• Konular: article
• Online Erişim: Connect to this object online.

Schaaf-Yang syndrome (SYS) is a rare genomic imprinting disorder caused by truncating mutations in the paternally derived MAGE family member L2 (MAGEL2) allele. It is also responsible for Prader-Willi syndrome, characterized by neonatal hypotonia, developmental delay, intellectual disability, respir...