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

Authors :: Soliani L
Spagnoli C
Salerno GG
Mehine M
Rizzi S
Frattini D
Koskenvuo J
Fusco C
Source :: Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society [J Neuroophthalmol] 2021 Mar 01; Vol. 41 (1), pp. e85-e88.
Publication Year :: 2021
Abstract: Competing Interests: Two authors are employed by Blueprint Genetics (M.M. and J.K.). The remaining authors report no conflicts of interest.

Subjects :: Adolescent
Brain diagnostic imaging
Fibrosis diagnostic imaging
Humans
Magnetic Resonance Imaging
Male
Ophthalmoplegia diagnostic imaging
Fibrosis genetics
Kinesins genetics
Mutation
Ophthalmoplegia genetics
Phenotype

Language :: English
ISSN :: 1536-5166
Volume :: 41
Issue :: 1
Database :: MEDLINE
Journal :: Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society
Publication Type :: Report
Accession number :: 32141982
Full Text :: https://doi.org/10.1097/WNO.0000000000000921

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