Review paper
MAGEL2‐related disorders: A study and case series
Abstract
Pathogenic MAGEL2 variants result in the phenotypes of Chitayat-Hall syndrome (CHS), Schaaf-Yang syndrome (SYS) and Prader-Willi syndrome (PWS). We present five patients with mutations in MAGEL2, including the first patient reported with a missense variant, adding to the limited literature. Further, we performed a systematic review of the CHS and SYS literature, assess the overlap between CHS, SYS and PWS, and analyze genotype-phenotype...
Paper Details
Title
MAGEL2‐related disorders: A study and case series
Published Date
Aug 22, 2019
Journal
Volume
96
Issue
6
Pages
493 - 505
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