Expanding the spectrum of endocrinopathies identified in Schaaf-Yang syndrome - A case report and review of the literature
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics,General Medicine
Reference18 articles.
1. Loss of MAGEL2 in Prader-Willi syndrome leads to decreased secretory granule and neuropeptide production;Chen;JCI Insight,2020
2. Three patients with Schaaf–Yang syndrome exhibiting arthrogryposis and endocrinological abnormalities;Enya;Am. J. Med. Genet.,2018
3. Prader-willi syndrome and schaaf-yang syndrome: neurodevelopmental diseases intersecting at the MAGEL2 gene;Fountain;Diseases,2016
4. Mutations in MAGEL2 and L1CAM are associated with congenital hypopituitarism and arthrogryposis;Gregory;J. Clin. Endocrinol. Metab.,2019
5. A novel mutation of MAGEL2 in a patient with schaaf-yang syndrome and hypopituitarism;Hidalgo-Santos;Int. J. Endocrinol. Metabol.,2018
Cited by 6 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Schaaf-Yang Syndrome: Clinical Phenotype and Effects of 4 years of Growth Hormone Treatment;Hormone Research in Paediatrics;2023-06-21
2. Syndromic forms of congenital hyperinsulinism;Frontiers in Endocrinology;2023-03-30
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. Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2;Journal of Medical Genetics;2022-09-07
5. Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2;2022-05-07
1.学者识别学者识别
2.学术分析学术分析
3.人才评估人才评估
"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370
www.globalauthorid.com
TOP
Copyright © 2019-2024 北京同舟云网络信息技术有限公司 京公网安备11010802033243号 京ICP备18003416号-3