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Article

Phenotypic spectrum and mechanism analysis of Schaff Yang syndrome: A case report on new mutation of MAGEL2 gene.

Medicine - 18 Jun 2021

Duan Yanjie, Liu Lu, Zhang Xiujuan, Jiang Xiuyun, Xu Jin, Guan Qingbo

Abstract excerpt

RATIONALE: The Schaaf-Yang syndrome (SYS) is an autosomal dominant multi-system genetic disease caused by melanoma antigen L2 (MAGEL2) gene mutations imprinted by mothers and expressed by fathers on the 15q11-15q13 chromosomes in the critical region of Prader-Willi. MAGEL2 is a single exon gene and one of the protein-coding genes of the Prader-Willi domain. MAGEL2 is a matrilineal imprinted gene (i.e., the...

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Identifiers

PMID: 34128869
DOI: 10.1097/MD.0000000000026309
PMCID: PMC8213290

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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