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

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...

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Detalles Bibliográficos
Autores principales:	Duan, Yanjie, Liu, Lu, Zhang, Xiujuan, Jiang, Xiuyun, Xu, Jin, Guan, Qingbo
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Lippincott Williams & Wilkins 2021
Materias:	3500
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8213290/ https://www.ncbi.nlm.nih.gov/pubmed/34128869 http://dx.doi.org/10.1097/MD.0000000000026309

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