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Article

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

Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society - 1 Mar 2021

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

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PMID: 32141982
DOI: 10.1097/WNO.0000000000000921

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Related research

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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.PMID 32141982Read ↗

Mutation analysis of KIF21A in congenital fibrosis of the extraocular muscles (CFEOM) patients.Semantic proximity Read ↗

KIF21A novel deletion and recurrent mutation in patients with congenital fibrosis of the extraocular muscles-1.Semantic proximity Read ↗

Novel and recurrent KIF21A mutations in congenital fibrosis of the extraocular muscles type 1 and 3.Semantic proximity Read ↗

A novel de novo KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and Möbius syndrome.Semantic proximity Read ↗

Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1).Semantic proximity Read ↗

Congenital fibrosis of extraocular muscle type 1A due to KIF21A mutation: first case report from Hong Kong.Semantic proximity Read ↗

KIF21A mutations in two Chinese families with congenital fibrosis of the extraocular muscles (CFEOM).Semantic proximity Read ↗

KIF21A variant R954W in familial or sporadic cases of CFEOM1.Semantic proximity Read ↗

KIF21A pathogenic variants cause congenital fibrosis of extraocular muscles type 3.Semantic proximity Read ↗

Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1.Semantic proximity Read ↗

New Mutation Sites of KIF21A Gene in Chinese Patients with Congenital Fibrosis of the Extraocular MusclesSemantic proximity Read ↗

Recurrent mutation of the KIF21A gene in Japanese patients with congenital fibrosis of the extraocular muscles.Semantic proximity Read ↗

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