International Journal of Endocrinology and Metabolism

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

Antonio D. Hidalgo-Santos 1 , * , Maria del Carmen DeMingo-Alemany 1 , Francisca Moreno-Macián 1 , Mónica Roselló 2 , Carmen Orellana 2 , Francisco Martínez 2 , Alfonso Caro-Llopis 2 , Sara León-Cariñena 1 and Miguel Tomás-Vila 3
Authors Information
1 Pediatric Endocrinology Section, University and Polytechnic Hospital La Fe, Valencia, Spain
2 Department of Clinical Genetics, University and Polytechnic Hospital La Fe, Valencia, Spain
3 Neuropediatric Section, University and Polytechnic Hospital La Fe, Valencia, Spain
Article information
  • International Journal of Endocrinology and Metabolism: July 2018, 16 (3); e67329
  • Published Online: July 1, 2018
  • Article Type: Case Report
  • Received: February 10, 2018
  • Revised: May 9, 2018
  • Accepted: June 12, 2018
  • DOI: 10.5812/ijem.67329

To Cite: D. Hidalgo-Santos A, del Carmen DeMingo-Alemany M, Moreno-Macián F, Roselló M, Orellana C, et al. A Novel Mutation of MAGEL2 in a Patient with Schaaf-Yang Syndrome and Hypopituitarism, Int J Endocrinol Metab. 2018 ; 16(3):e67329. doi: 10.5812/ijem.67329.

Copyright © 2018, International Journal of Endocrinology and Metabolism. This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International License ( which permits copy and redistribute the material just in noncommercial usages, provided the original work is properly cited
1. Introduction
2. Case Presentation
3. Discussion
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