MEHMO (mental retardation, epileptic seizures, hypogonadism and -genitalism, microcephaly, obesity), a novel syndrome: assignment of disease locus to Xp21.1

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MEHMO (mental retardation, epileptic seizures, hypogonadism and -genitalism, microcephaly, obesity), a novel syndrome: assignment of disease locus to Xp21.1–p22.13

Published:1998-05 Issue:3 Volume:6 Page:201-206
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Steinmüller Rolf,Steinberger Daniela,Müller Ulrich

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/5200180.pdf

Cited by 44 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. The Role of ER Stress in Diabetes: Exploring Pathological Mechanisms Using Wolfram Syndrome;International Journal of Molecular Sciences;2022-12-23

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

3. Expanding the phenotype of the recurrent truncating eIF2γ pathogenic variant p.( Ile465Serfs *4) identified in two brothers with MEHMO syndrome;Clinical Case Reports;2022-06

4. The role of eIF2 phosphorylation in cell and organismal physiology: new roles for well-known actors;Biochemical Journal;2022-05-23

5. The application of precision medicine in monogenic diabetes;Expert Review of Endocrinology & Metabolism;2022-03-01

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