<scp> <i>EEF1A2</i> </scp> pathogenic variant presenting in an infant with failure to thrive and frequent apneas requiring respiratory support-Reference-Cited by-同舟云学术

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EEF1A2 pathogenic variant presenting in an infant with failure to thrive and frequent apneas requiring respiratory support

Published:2022-08-08 Issue:10 Volume:188 Page:3106-3109
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Vogt Lindsey M.¹,Lorenzo Melissa²,B. Prendergast D'Arcy³,Jobling Rebekah³,Gill Peter J.⁴

Affiliation:

1. Division of Paediatric Neurology Hospital for Sick Children Toronto Ontario Canada

2. Division of Emergency Medicine Hospital for Sick Children Toronto Ontario Canada

3. Division of Clinical and Metabolic Genetics Hospital for Sick Children Toronto Ontario Canada

4. Division of Paediatric Medicine Hospital for Sick Children Toronto Ontario Canada

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62932

Reference7 articles.

1. Damaging de novo missense variants inEEF1A2lead to a developmental and degenerative epileptic‐dyskinetic encephalopathy

2. Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy

3. The respiratory control mechanisms in the brainstem and spinal cord: integrative views of the neuroanatomy and neurophysiology

4. The mutational constraint spectrum quantified from variation in 141,456 humans

5. Whole exome sequencing reveals a de novo missense variant in EEF1A2 in a Rett syndrome‐like patient

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. Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study;European Journal of Human Genetics;2024-02-15

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