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

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

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...

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Bibliographic Details
Main Authors: Seung Hoon Lee, Seung Han Shin, Jung Min Ko, Boram Kim, Hyeon Sae Oh, Man Jin Kim, Seul Gi Park, Ee-Kyung Kim, Han-Suk Kim
Format: Article
Language:English
Published: Korean Society of Neonatology 2022-08-01
Series:Neonatal Medicine
Subjects:
schaaf-yang syndrome
magel2
respiratory distress
hearing impairment
Online Access:http://neo-med.org/upload/pdf/nm-2022-29-3-112.pdf

Internet

http://neo-med.org/upload/pdf/nm-2022-29-3-112.pdf

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