Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

[Identification of a novel KIF21A gene mutation in a Chinese family with congenital fibrosis of the extraocular muscles].

[Zhonghua yan ke za zhi] Chinese journal of ophthalmology - 11 Mar 2022

Xia C R, Shi L H, Nan J, Hao Y Z, Jia Yading

Abstract excerpt

The proband presented with bilateral congenital non-progressive ptosis and limitation of eye rotation since childhood. The diagnosis was congenital fibrosis of the extraocular muscles. A new KIF21 pathogenic mutation locus was found. It was a KIF21A-ex20 c.2821C>T (p.Arg941Trp) heterozygous missense mutation, which caused the disease in this family....

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Child
Share to China
Share to Fibrosis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Kinesins

Share to Mutation

Share to Ophthalmoplegia

Share to Pedigree

Source

Identifiers

PMID: 35280030
DOI: 10.3760/cma.j.cn112142-20210915-00424

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Identification of a novel KIF21A gene mutation in a Chinese family with congenital fibrosis of the extraocular muscles].PMID 35280030Read ↗

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

[R954 mutations in KIF21A gene in Chinese patients with congenital fibrosis of extraocular muscles].Semantic proximity Read ↗

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

[Mutation analysis of KIF21A gene in a Chinese family with congenital fibrosis of the extraocular muscles type I].Semantic proximity Read ↗

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

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

KIF21A mutation in two Chinese families with congenital fibrosis of the extraocular muscles type 1 and 3.Semantic proximity Read ↗

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

KIF21A gene c.2860C>T mutation in congenital fibrosis of extraocular muscles type 1 and 3.Semantic proximity Read ↗

Mutation p.Arg954Trp of KIF21A causes congenital fibrosis of the extraocular muscles in a Chinese family.Semantic proximity Read ↗

[The clinical manifestation and linkage analysis in one Chinese family with congenital fibrosis of extraocular muscles].Semantic proximity Read ↗

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

⌁Select a neighboring publication to make it the new centre.