MEHMO syndrome and the link between brain, pituitary and pancreas

Author:

Maghnie Mohamad,Barbetti Fabrizio

Publisher

Elsevier BV

Subject

General Biochemistry, Genetics and Molecular Biology,General Medicine

Reference10 articles.

1. Genetic causes and treatment of neonatal diabetes and early childhood diabetes;Barbetti;Best Pract Res Endocrinol Metab,2018

2. eIF2-gamma mutation that disrupts eIF2 complex integrity links intellectual disability to impaired translation initiation;Borck;Mol Cell,2012

3. Gregory L.C., Carolina B Ferreira, Sara K Young-Baird, Hywel J Williams, Magdalena Harakalova, van Haaften Gijs, 2019 et al. Impaired EIF2S3 function associated with a novel phenotype of X linked hypopituitarism with glucose dysregulation. EBioMedicine, https://doi.org/10.1016/j.ebiom.2019.03.01.

4. Two novel EIF2S3 mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy;Moortgat;Am J Med Genet A,2016

5. Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations of HNF4A gene;Pearson;PLoS Med,2007

Cited by 3 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. Hypothalamo-pituitary Disorders in Childhood and Adolescence;Endocrinology;2023

2. MEHMO syndrome: complexity of verifying the diagnosis;Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics);2022-11-20

3. Molecular mechanisms of β-cell dysfunction and death in monogenic forms of diabetes;Pancreatic ß-Cell Biology in Health and Disease;2021

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