Related references
Note: Only part of the references are listed.Sensenbrenner Syndrome Presenting with Severe Anorexia, Failure to Thrive, Chronic Kidney Disease and Angel-Shaped Middle Phalanges in Two Siblings
Miroslava Brndiarova et al.
MOLECULAR SYNDROMOLOGY (2021)
Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease
Joanna Walczak-Sztulpa et al.
ORPHANET JOURNAL OF RARE DISEASES (2020)
Prenatal genetic diagnosis of cranioectodermal dysplasia in a Polish family with compound heterozygous variants inWDR35
Joanna Walczak-Sztulpa et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2020)
Opportunities and Challenges for Molecular Understanding of Ciliopathies-The 100,000 Genomes Project
Gabrielle Wheway et al.
FRONTIERS IN GENETICS (2019)
Identification and analysis of the genetic causes in nine unrelated probands with syndromic craniosynostosis
Yufei Xu et al.
GENE (2018)
Exome sequencing for the differential diagnosis of ciliary chondrodysplasias: Example of a WDR35 mutation case and review of the literature
Dinu Antony et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2017)
Diversity of renal phenotypes in patients with WDR19 mutations: Two case reports
Takahisa Yoshikawa et al.
NEPHROLOGY (2017)
The evolving craniofacial phenotype of a patient with Sensenbrenner syndrome caused by IFT140 compound heterozygous mutations
Allan Bayat et al.
CLINICAL DYSMORPHOLOGY (2017)
Ciliopathies: Genetics in Pediatric Medicine
Machteld M. Oud et al.
JOURNAL OF PEDIATRIC GENETICS (2017)
Novel IFT122 Mutations in Three Argentinian Patients with Cranioectodermal Dysplasia: Expanding the Mutational Spectrum
Shahida Moosa et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2016)
Respiratory Motile Cilia Dysfunction in a Patient with Cranioectodermal Dysplasia
You Li et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2015)
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Sue Richards et al.
GENETICS IN MEDICINE (2015)
Sensenbrenner Syndrome (Cranioectodermal Dysplasia): Clinical and Molecular Analyses of 39 Patients Including Two New Patients
Angela E. Lin et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2013)
Novel WDR35 mutations in patients with cranioectodermal dysplasia (Sensenbrenner syndrome)
J. L. Hoffer et al.
CLINICAL GENETICS (2013)
WDR35 mutation in siblings with Sensenbrenner syndrome: A ciliopathy with variable phenotype
Carlos A. Bacino et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2012)
Mechanisms of disease - When cilia go bad: cilia defects and ciliopathies
Manfred Fliegauf et al.
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2007)