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

Expanding the phenotypic spectrum of IFT81: Associated ciliopathy syndrome.

American journal of medical genetics. Part A - 1 Oct 2020

Ashraf Tazeen, Vaina Camelia, Giri Dinesh, Burren Christine P, James Margaret, Offiah Amaka C, Overton Timothy, Baptista Julia, Ellard Sian, Smithson Sarah F

Abstract excerpt

Short-rib polydactyly syndromes are a heterogeneous group of disorders characterized by narrow thorax with short ribs, polydactyly and often other visceral and skeletal malformations. To date there have only been six reported patients with homozygous and compound heterozygous variants in IFT81, causing a short-rib thoracic dysplasia, with, or without, polydactyly (SRTD19: OMIM 617895). IFT81 is a protein integral...

Read the complete abstract on PubMed

Topics

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

Share to Cilia
Share to Ciliopathies

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

Share to Craniosynostoses

Share to Homozygote

Share to Infant, Newborn

Share to Muscle Proteins

Share to Mutation

Share to Phenotype

Source

Identifiers

PMID: 32783357
DOI: 10.1002/ajmg.a.61781

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

Expanding the phenotypic spectrum of IFT81: Associated ciliopathy syndrome.PMID 32783357Read ↗

Loss of function IFT27 variants associated with an unclassified lethal fetal ciliopathy with renal agenesis.Semantic proximity Read ↗

IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome.Semantic proximity Read ↗

Identical IFT140 Variants Cause Variable Skeletal Ciliopathy Phenotypes—Challenges for the Accurate DiagnosisSemantic proximity Read ↗

A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy.Semantic proximity Read ↗

IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humansSemantic proximity Read ↗

Complete loss of IFT27 function leads to a phenotypic spectrum of fetal lethal ciliopathy associated with altered ciliogenesis.Semantic proximity Read ↗

Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies.Semantic proximity Read ↗

Cellular ciliary phenotyping indicates pathogenicity of novel variants in IFT140 and confirms a Mainzer–Saldino syndrome diagnosisSemantic proximity Read ↗

Beemer-Langer syndrome is a ciliopathy due to biallelic mutations in IFT122.Semantic proximity Read ↗

KIAA0753-related skeletal ciliopathy: a ninth case, extending the phenotype and reporting a novel variant.Semantic proximity Read ↗

IFT80 mutations cause a novel complex ciliopathy phenotype with retinal degeneration.Semantic proximity Read ↗

Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease.Semantic proximity Read ↗

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