A Novel Mutation of MAGEL2 in a Patient with Schaaf-Yang Syndrome and Hypopituitarism-Reference-Cited by-同舟云学术

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

Published:2018-07-01 Issue:In Press Volume:In Press Page:
ISSN:1726-913X
Container-title:International Journal of Endocrinology and Metabolism
language:
Short-container-title:Int J Endocrinol Metab

Author:

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

Publisher

Briefland

Subject

Endocrinology, Diabetes and Metabolism

Reference17 articles.

1. Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism

2. Cellular and disease functions of the Prader–Willi Syndrome gene MAGEL2

3. The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families

4. Phenotype of two Polish patients with Schaaf–Yang syndrome confirmed by identifying mutation in MAGEL2 gene

5. Magel2 Gene Mutation and Its Associated Phenotypic Features in A Five-Month-Old Female

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1. MAGEL2 (patho‐)physiology and Schaaf–Yang syndrome;Developmental Medicine & Child Neurology;2024-07

2. Schaaf-Yang Syndrome: Clinical Phenotype and Effects of 4 years of Growth Hormone Treatment;Hormone Research in Paediatrics;2023-06-21

3. Preimplantation Genetic Testing (PGT) and Prenatal Diagnosis of Schaaf-Yang Syndrome: A Report of Three Families and a Research on Genotype–Phenotype Correlations;Journal of Clinical Medicine;2023-02-20

4. Research Article Genotypic and phenotypic relationship between Prader-Willi and Prader-Willi-Like syndromes;Genetics and Molecular Research;2023

5. Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2;Journal of Medical Genetics;2022-09-07