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

Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease.

Orphanet journal of rare diseases - 1 Feb 2020

Walczak-Sztulpa Joanna, Posmyk Renata, Bukowska-Olech Ewelina M, Wawrocka Anna, Jamsheer Aleksander, Oud Machteld M, Schmidts Miriam, Arts Heleen H, Latos-Bielenska Anna, Wasilewska Anna

Abstract excerpt

BACKGROUND: Sensenbrenner syndrome, which is also known as cranioectodermal dysplasia (CED), is a rare, autosomal recessive ciliary chondrodysplasia characterized by a variety of clinical features including a distinctive craniofacial appearance as well as skeletal, ectodermal, liver and renal anomalies. Progressive renal disease can be life-threatening in this condition. CED is a genetically heterogeneous...

Read the complete abstract on PubMed

Topics

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

Share to Bone and Bones
Share to Carrier Proteins

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

Share to Child, Preschool

Share to Craniosynostoses

Share to Ectodermal Dysplasia

Share to Kidney Failure, Chronic

Share to Mutation

Share to Poland

Source

Open in PubMed Open full text

Identifiers

PMID: 32007091
DOI: 10.1186/s13023-020-1303-2
PMCID: PMC6995138

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

Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease.PMID 32007091Read ↗

Intrafamilial phenotypic variability in a Polish family with Sensenbrenner syndrome and biallelic WDR35 mutations.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 ↗

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

Interfamilial clinical variability in four Polish families with cranioectodermal dysplasia and identical compound heterozygous variants in WDR35.Semantic proximity Read ↗

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

WDR35 variants in a cranioectodermal dysplasia patient with early onset end-stage renal disease and retinal dystrophy.Semantic proximity Read ↗

Mutations in WDR19 encoding the intraflagellar transport component IFT144 cause a broad spectrum of ciliopathies.Semantic proximity Read ↗

Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome.Semantic proximity Read ↗

A relatively mild skeletal ciliopathy phenotype consistent with cranioectodermal dysplasia is associated with a homozygous nonsynonymous mutation in WDR35.Semantic proximity Read ↗

Expanding the Senior-Løken syndrome spectrum: Combined Rothmund-Thomson features unveil the distinct Teelwani Syndrome phenotypeSemantic proximity Read ↗

Rare IFT140-Associated Phenotype of Cranioectodermal Dysplasia and Features of Diagnostic Journey in Patients with Suspected Ciliopathies.Semantic proximity Read ↗

Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype.Semantic proximity Read ↗

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