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

Biallelic Variants in KIF17 Associated with Microphthalmia and Coloboma Spectrum.

International journal of molecular sciences - 25 Apr 2021

Riva Antonella, Gambadauro Antonella, Dipasquale Valeria, Casto Celeste, Ceravolo Maria Domenica, Accogli Andrea, Scala Marcello, Ceravolo Giorgia, Iacomino Michele, Zara Federico, Striano Pasquale, Cuppari Caterina, Di Rosa Gabriella, Cutrupi Maria Concetta, Salpietro Vincenzo, Chimenz Roberto

Abstract excerpt

Microphthalmia, anophthalmia, and coloboma (MAC) are a group of congenital eye anomalies that can affect one or both eyes. Patients can present one or a combination of these ocular abnormalities in the so called "MAC spectrum". The KIF17 gene encodes the kinesin-like protein Kif17, a microtubule-based, ATP-dependent, motor protein that is pivotal for outer segment development and disc morphogenesis in different...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to Coloboma

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Genetic Variation

Share to Infant

Share to Kinesins

Share to Microphthalmos

Share to Pedigree

Source

Open in PubMed Open full text

Identifiers

PMID: 33922911
DOI: 10.3390/ijms22094471
PMCID: PMC8123208

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Biallelic Variants in KIF17 Associated with Microphthalmia and Coloboma Spectrum.PMID 33922911Read ↗

Exome sequencing in patients with microphthalmia, anophthalmia, and coloboma (MAC) from a consanguineous population.Semantic proximity Read ↗

Whole Exome Sequencing in Coloboma/Microphthalmia: Identification of Novel and Recurrent Variants in Seven GenesSemantic proximity Read ↗

Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy.Semantic proximity Read ↗

Biallelic variants in KIF14 cause intellectual disability with microcephaly.Semantic proximity Read ↗

Autosomal dominant neurodevelopmental disorders associated with KIF1A gene variants in 6 pediatric patients.Semantic proximity Read ↗

Ophthalmic Manifestations of KIF11-Associated Microcephaly With or Without Chorioretinopathy, Lymphedema, or Intellectual Disability: A Case Report of a Novel Variant.Semantic proximity Read ↗

Expanding the KIF4A-associated phenotype.Semantic proximity Read ↗

Real-world clinical and molecular management of 50 prospective patients with microphthalmia, anophthalmia and/or ocular colobomaSemantic proximity Read ↗

Dominantly acting KIF5B variants with pleiotropic cellular consequences cause variable clinical phenotypes.Semantic proximity Read ↗

Identification of novel pathogenic variants and novel gene-phenotype correlations in Mexican subjects with microphthalmia and/or anophthalmia by next-generation sequencing.Semantic proximity Read ↗

Novel ocular feature in oculoskeletodental syndrome: high axial myopia and megalocornea in a child with a homozygous PIK3C2A variant.Semantic proximity Read ↗

Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature review.Semantic proximity Read ↗

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