Literature DB >> 32141982

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

Luca Soliani1, Carlotta Spagnoli, Grazia G Salerno, Miika Mehine, Susanna Rizzi, Daniele Frattini, Juha Koskenvuo, Carlo Fusco.   

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Year:  2021        PMID： 32141982     DOI： 10.1097/WNO.0000000000000921

Source DB:  PubMed          Journal:  J Neuroophthalmol        ISSN： 1070-8022            Impact factor:   3.042


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  2 in total

1.  Phenotype, genotype, and management of congenital fibrosis of extraocular muscles type 1 in 16 Chinese families.

Authors:  Moxin Chen; Rui Huang; Yingjie Zhang; Deyi Jasmine Zhu; Qin Shu; Pengcheng Xun; Jing Zhang; Ping Gu; Lin Li
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  2022-09-23       Impact factor: 3.535

2.  KIF21A pathogenic variants cause congenital fibrosis of extraocular muscles type 3.

Authors:  Christiane Al-Haddad; Rose-Mary Boustany; Elza Rachid; Karine Ismail; Brenda Barry; Wai-Man Chan; Elizabeth Engle
Journal:  Ophthalmic Genet       Date:  2020-11-29       Impact factor: 1.803
  2 in total

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