A Novel De Novo KIF21A Variant in a Patient With Congenital Fibrosis of the Extraocular Muscles With a Syndromic CFEOM Phenotype-Reference-Cited by-同舟云学术

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A Novel De Novo KIF21A Variant in a Patient With Congenital Fibrosis of the Extraocular Muscles With a Syndromic CFEOM Phenotype

Published:2020-03-03 Issue:1 Volume:41 Page:e85-e88
ISSN:1070-8022
Container-title:Journal of Neuro-Ophthalmology
language:en
Short-container-title:

Author:

Soliani Luca,Spagnoli Carlotta,Salerno Grazia G.,Mehine Miika,Rizzi Susanna,Frattini Daniele,Koskenvuo Juha,Fusco Carlo

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Neurology (clinical),Ophthalmology

Reference10 articles.

1. Heterozygous mutations of the kinesin KIF21A in Congenital Fibrosis of the Extraocular Muscles Type 1 (CFEOM1);Yamada;Nat Genet.,2003

2. Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance;Tischfield;Cell.,2010

3. Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3);Yamada;Invest Ophthalmol Vis Sci.,2004

4. A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3;Chew;Brain.,2013

5. Altered white matter organization in the TUBB3 E410K syndrome;Grant;Cereb Cortex.,2019

Cited by 6 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. Clinical and genetic characteristics of Chinese patients with congenital fibrosis of the extraocular muscles;Orphanet Journal of Rare Diseases;2024-08-15

2. Phenotypic heterogeneity associated with KIF21A: Two new cases and review of the literature;American Journal of Medical Genetics Part A;2023-11-03

3. TUBB3 and KIF21A in neurodevelopment and disease;Frontiers in Neuroscience;2023-08-04

4. Congenital Fibrosis of the Extraocular Muscles: An Overview from Genetics to Management;Children;2022-10-22

5. Phenotype, genotype, and management of congenital fibrosis of extraocular muscles type 1 in 16 Chinese families;Graefe's Archive for Clinical and Experimental Ophthalmology;2022-09-23

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