A Novel Mutation of MAGEL2 in a Patient with Schaaf-Yang Syndrome and Hypopituitarism

INTRODUCTION: Schaaf-Yang syndrome (SYS) is caused by truncating point mutations of the paternal allele of MAGEL2, an imprinted gene located in the critical region of Prader-Willi syndrome (PWS). These patients present a phenotype with neurodevelopmental delay, hypotonia, joint contractures, and a p...

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Detalles Bibliográficos
Autores principales: D. Hidalgo-Santos, Antonio, del Carmen DeMingo-Alemany, Maria, Moreno-Macián, Francisca, Roselló, Mónica, Orellana, Carmen, Martínez, Francisco, Caro-Llopis, Alfonso, León-Cariñena, Sara, Tomás-Vila, Miguel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Kowsar 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6176277/
https://www.ncbi.nlm.nih.gov/pubmed/30323850
http://dx.doi.org/10.5812/ijem.67329

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6176277/
https://www.ncbi.nlm.nih.gov/pubmed/30323850
http://dx.doi.org/10.5812/ijem.67329

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