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

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

American journal of medical genetics. Part A - 1 Oct 2022

Walczak-Sztulpa Joanna, Wawrocka Anna, Sikora Weronika, Pawlak Marta, Bukowska-Olech Ewelina, Kopaczewski Bartłomiej, Urzykowska Agnieszka, Arts Heleen H, Gotz-Więckowska Anna, Grenda Ryszard, Latos-Bieleńska Anna, Glazar Renata

Abstract excerpt

Cranioectodermal dysplasia (CED) is rare heterogeneous condition. It belongs to a group of disorders defined as ciliopathies and is associated with defective cilia function and structure. To date six genes have been associated with CED. Here we describe a 4-year-old male CED patient whose features include dolichocephaly, multi-suture craniosynostosis, epicanthus, frontal bossing, narrow thorax, limb shortening,...

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 Craniosynostoses

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cytoskeletal Proteins

Share to Dwarfism

Share to Ectodermal Dysplasia

Share to Kidney Failure, Chronic

Share to Osteochondrodysplasias

Share to Retinal Dystrophies

Source

Identifiers

PMID: 35875935
DOI: 10.1002/ajmg.a.62903

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

WDR35 variants in a cranioectodermal dysplasia patient with early onset end-stage renal disease and retinal dystrophy.PMID 35875935Read ↗

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

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

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

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

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

Sensenbrenner syndrome (Cranioectodermal dysplasia): clinical and molecular analyses of 39 patients including two new patients.Semantic proximity Read ↗

Novel WDR35 mutations in patients with cranioectodermal dysplasia (Sensenbrenner syndrome).Semantic proximity Read ↗

Expanding the phenotypic spectrum consequent upon de novo WDR37 missense variants.Semantic proximity Read ↗

WDR35 mutation in siblings with Sensenbrenner syndrome: a ciliopathy with variable phenotype.Semantic proximity Read ↗

ARHGAP35 is a novel factor disrupted in human developmental eye phenotypes.Semantic proximity Read ↗

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

Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis.Semantic proximity Read ↗

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