Expanding the phenotype of the recurrent truncating <scp>eIF2γ</scp> pathogenic variant p.( <scp>Ile465Serfs</scp> *4) identified in two brothers with <scp>MEHMO</scp> syndrome-Reference-Cited by-同舟云学术

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Expanding the phenotype of the recurrent truncating eIF2γ pathogenic variant p.( Ile465Serfs *4) identified in two brothers with MEHMO syndrome

Published:2022-06 Issue:6 Volume:10 Page:
ISSN:2050-0904
Container-title:Clinical Case Reports
language:en
Short-container-title:Clinical Case Reports

Author:

Ygberg Sofia¹²,Lindstrand Anna²³^ORCID

Affiliation:

1. Neuropediatric Unit Karolinska University Hospital Stockholm Sweden

2. Department of Clinical Genetics and Centre for Inherited Metabolic Diseases (CMMS) Karolinska University Hospital Stockholm Sweden

3. Department of Molecular Medicine and Surgery Karolinska Institutet Stockholm Sweden

Funder

Swedish Research Council

Publisher

Wiley

Subject

General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ccr3.5989

Reference10 articles.

1. eIF2γ Mutation that Disrupts eIF2 Complex Integrity Links Intellectual Disability to Impaired Translation Initiation

2. Two novelEIF2S3mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy

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

4. Dominant Mutations in KAT6A Cause Intellectual Disability with Recognizable Syndromic Features

5. Impaired EIF2S3 function associated with a novel phenotype of X-linked hypopituitarism with glucose dysregulation

Cited by 1 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. Syndromic forms of congenital hyperinsulinism;Frontiers in Endocrinology;2023-03-30

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