• A heritable syndrome of craniosynostosis, short thin hair, dental abnormalities, and short limbs: cranioectodermal dysplasia
• A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy
• A new oculorenal syndrome: retinal dystrophy and tubulointerstitial nephropathy in cranioectodermal dysplasia
• A novel combination of biallelic IFT122 variants associated with cranioectodermal dysplasia: A case report
• A novel variant in IFT122 associated with a severe phenotype of cranioectodermal dysplasia
• A relatively mild skeletal ciliopathy phenotype consistent with cranioectodermal dysplasia is associated with a homozygous nonsynonymous mutation in WDR35
• Beemer-Langer syndrome is a ciliopathy due to biallelic mutations in IFT122
• Case Report: Sequential Liver After Kidney Transplantation in a Patient With Sensenbrenner Syndrome (Cranioectodermal Dysplasia)
• Chronic renal failure and cranioectodermal dysplasia: a further step
• Chronic tubulo-interstitial nephropathy in children with cranioectodermal dysplasia
• Ciliary Genes in Renal Cystic Diseases
• Ciliary phenotyping in renal epithelial cells in a cranioectodermal dysplasia patient with <em>WDR35</em> variants
• Ciliary phenotyping in renal epithelial cells in a cranioectodermal dysplasia patient with WDR35 variants
• Ciliopathies: Coloring outside of the lines
• Ciliopathy-associated mutations of IFT122 impair ciliary protein trafficking but not ciliogenesis
• Clinical and molecular genetic characterization of a male patient with Sensenbrenner syndrome (cranioectodermal dysplasia) and biallelic WDR35 mutations
• Clinical features and mutational analysis of a case with Sensenbrenner syndrome
• Clinical genetics and pathobiology of ciliary chondrodysplasias
• Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease
• Connective tissue involvement in two patients with features of cranioectodermal dysplasia
• Cranio-ectodermal dysplasia
• Cranioectodermal dysplasia
• Cranioectodermal Dysplasia
• Cranioectodermal dysplasia (Sensenbrenner's syndrome)
• Cranioectodermal dysplasia in sibs
• Cranioectodermal dysplasia with sagittal craniosynostosis (Sensenbrenner's syndrome): case report and review of the literature
• Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene
• Cranioectodermal dysplasia: a new patient with an inapparent, subtle phenotype
• Cranioectodermal dysplasia: a probable ciliopathy
• Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans
• Diversity of renal phenotypes in patients with WDR19 mutations: Two case reports
• Exome sequencing for the differential diagnosis of ciliary chondrodysplasias: Example of a WDR35 mutation case and review of the literature
• Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome
• Expanded phenotype of cranioectodermal dysplasia (Sensenbrenner syndrome)
• Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies
• Functional characterization of tektin-1 in motile cilia and evidence for TEKT1 as a new candidate gene for motile ciliopathies
• Having Multiple Renal Cysts in a Young Adult is not Always a Sign of Polycystic Kidney Disease
• Identical <em>IFT140</em> Variants Cause Variable Skeletal Ciliopathy Phenotypes-Challenges for the Accurate Diagnosis
• Identification of five novel genetic loci related to facial morphology by genome-wide association studies
• Interfamilial clinical variability in four Polish families with cranioectodermal dysplasia and identical compound heterozygous variants in WDR35
• Intrafamilial phenotypic variability in a Polish family with Sensenbrenner syndrome and biallelic WDR35 mutations
• Intrafamilial phenotypic variations in cranioectodermal dysplasia: propositus with typical manifestations and her brother with perinatal death
• Matching two independent cohorts validates DPH1 as a gene responsible for autosomal recessive intellectual disability with short stature, craniofacial, and ectodermal anomalies
• Molecular basis of ciliary defects caused by compound heterozygous IFT144/WDR19 mutations found in cranioectodermal dysplasia
• Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit
• Novel compound heterozygous WDR35 variants in a Chinese patient associated with cranioectodermal dysplasia and ectopic testis: a case report and review of the literature
• Novel IFT122 mutation associated with impaired ciliogenesis and cranioectodermal dysplasia
• Novel IFT122 mutations in three Argentinian patients with cranioectodermal dysplasia: Expanding the mutational spectrum
• Novel WDR35 mutations in patients with cranioectodermal dysplasia (Sensenbrenner syndrome)
• Orthotopic liver transplantation for Sensenbrenner syndrome
• Phenotype of cranioectodermal dysplasia with different hair and bone abnormalities
• Pigmentosum retinis and tubulo-interstitial nephronophtisis in Sensenbrenner syndrome: a case report
• Prenatal genetic diagnosis of cranioectodermal dysplasia in a Polish family with compound heterozygous variants in WDR35
• Prenatal sonographic features of cranioectodermal dysplasia
• Prenatal sonographic findings and prognosis of craniosynostosis diagnosed during the fetal and neonatal periods
• Rare IFT140-Associated Phenotype of Cranioectodermal Dysplasia and Features of Diagnostic Journey in Patients with Suspected Ciliopathies
• Renal failure due to tubulointerstitial nephropathy in an infant with cranioectodermal dysplasia
• Resolved Severe Primary Hypothyroidism in Sensenbrenner Syndrome Post Hepatorenal Transplantation: A Case Report
• Respiratory motile cilia dysfunction in a patient with cranioectodermal dysplasia
• Role of Primary Cilia in Odontogenesis
• Sensenbrenner syndrome (Cranioectodermal dysplasia): clinical and molecular analyses of 39 patients including two new patients
• Sensenbrenner Syndrome Presenting with Severe Anorexia, Failure to Thrive, Chronic Kidney Disease and Angel-Shaped Middle Phalanges in Two Siblings
• Sensenbrenner syndrome: a further challenge in evaluating sagittal synostosis and a need for a multidisciplinary approach
• Sensenbrenner syndrome: a new member of the hepatorenal fibrocystic family
• Skeletal ciliopathies: a pattern recognition approach
• The evolving craniofacial phenotype of a patient with Sensenbrenner syndrome caused by IFT140 compound heterozygous mutations
• Ttc30a affects tubulin modifications in a model for ciliary chondrodysplasia with polycystic kidney disease
• Uncommon runs of homozygosity disclose homozygous missense mutations in two ciliopathy-related genes (SPAG17 and WDR35) in a patient with multiple brain and skeletal anomalies
• WDR35 mutation in siblings with Sensenbrenner syndrome: a ciliopathy with variable phenotype
• WDR35 variants in a cranioectodermal dysplasia patient with early onset end-stage renal disease and retinal dystrophy
• Whole exome sequencing revealed biallelic IFT122 mutations in a family with CED1 and recurrent pregnancy loss