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

Internet

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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