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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

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.

J Neuroophthalmol. 2021 Mar 1;41(1):e85-e88. doi: 10.1097/WNO.0000000000000921.

Disclaimer: One or more of the authors of this publication were employed at the time by BluePrint Genetics, a subsidiary of Quest Diagnostics.

Specialties: Genetics, Neurology

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