Characteristic facial features and cortical blindness distinguish the DOCK7 ‐related epileptic encephalopathy-Reference-Cited by-同舟云学术

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Characteristic facial features and cortical blindness distinguish the DOCK7 ‐related epileptic encephalopathy

Published:2021-01-20 Issue:3 Volume:9 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol. Genet. Genomic Med.

Author:

Haberlandt Edda¹²,Valovka Taras¹,Janjic Tanja³,Müller Thomas¹,Blatsios Georgios⁴,Karall Daniela¹,Janecke Andreas R.¹⁵^ORCID

Affiliation:

1. Department of Pediatrics I Medical University of Innsbruck Innsbruck Austria

2. Krankenhaus der Stadt Dornbirn Kinder‐ und Jugendheilkunde Dornbirn Austria

3. Department of Neuroradiology Medical University of Innsbruck Innsbruck Austria

4. Department of Ophthalmology Medical University of Innsbruck Innsbruck Austria

5. Division of Human Genetics Medical University of Innsbruck Innsbruck Austria

Funder

Oesterreichische Nationalbank

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1607

Reference13 articles.

1. Novel DOCK7 mutations in a Chinese patient with early infantile epileptic encephalopathy 23

2. A recognizable type of syndromic short stature with arthrogryposis caused by bi-allelic SEMA3A loss-of-function variants

3. Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy

4. From next-generation sequencing to targeted treatment of non-acquired epilepsies

5. Exome Sequencing,ANGPTL3Mutations, and Familial Combined Hypolipidemia

Cited by 4 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. A novel DOCK7 variant as a rare reason for epileptic encephalopathy, cortical blindness, dysmorphic features: A case report and brief review of the literature;Neurology Asia;2023-06

2. Diverse targets of SMN2-directed splicing-modulating small molecule therapeutics for spinal muscular atrophy;Nucleic Acids Research;2023-04-07

3. Homozygosity for a Novel DOCK7 Variant Due to Segmental Uniparental Isodisomy of Chromosome 1 Associated with Early Infantile Epileptic Encephalopathy (EIEE) and Cortical Visual Impairment;International Journal of Molecular Sciences;2022-07-02

4. A novel pathogenic variant in DOCK 7 gene in an infant with dysmorphism, epileptic encephalopathy and cortical blindness;Clinical Dysmorphology;2021-09-02

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