Disease: Aplasia cutis autosomal recessive
- A homozygous nonsense variant in DYM underlies Dyggve-Melchior-Clausen syndrome associated with ectodermal features
- A novel combination of biallelic IFT122 variants associated with cranioectodermal dysplasia: A case report
- A Novel Ectodysplasin a Gene mutation of X-Linked Hypohidrotic Ectodermal Dysplasia
- A novel homozygous nonsense mutation in NECTIN4 gene in a Pakistani family with ectodermal dysplasia syndactyly syndrome 1
- A novel homozygous RIPK4 variant in a family with severe Bartsocas-Papas syndrome
- A novel missense variant in cathepsin C gene leads to PLS in a Chinese patient: A case report and literature review
- A novel variant in DOCK6 gene associated with Adams-Oliver syndrome type 2
- A rare case of congenital insensitivity to pain with anhidrosis
- A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report
- A recurrent missense mutation in the EDAR gene causes severe autosomal recessive hypohidrotic ectodermal dysplasia in two consanguineous Kashmiri families
- A Recurrent Nonsense Mutation in NECTIN4 Underlying Ectodermal Dysplasia-Syndactyly Syndrome with a Novel Phenotype in a Consanguineous Kashmiri Family
- Adams-Oliver syndrome and associated complications: Report of a family in Colombia and review of the literature
- Adams-Oliver syndrome caused by mutations of the EOGT gene
- An intrafamilial phenotypic variability in Ellis-Van Creveld syndrome due to a novel 27 bps deletion mutation
- ANOTHER syndrome-Familial presentations of progressive lung disease leading to double lung transplantation: A case report and literature review
- Autosomal recessive inheritance of a novel missense mutation of ITGB4 for Epidermolysis-Bullosa pyloric-atresia: a case report
- Botanical extract combined with minoxidil improve hidrotic ectodermal dysplasia caused by p.G11R mutations: a case report
- Broadening the phenotypic spectrum of EVEN-PLUS syndrome through identification of HSPA9 pathogenic variants in the original EVE dysplasia family and two sibs with milder facial phenotype
- Case Report: Sequential Liver After Kidney Transplantation in a Patient With Sensenbrenner Syndrome (Cranioectodermal Dysplasia)
- CEDNIK syndrome with phenotypic variability
- Characterization of EDARADD gene mutations responsible for hypohidrotic ectodermal dysplasia
- Child with a mild CHIME syndrome phenotype and carrying a novel p.(Asp52Asn) PIGL pathogenic variant in association with the previously reported p.(Leu167Pro) variant: A case report
- 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
- Clinical and Molecular Genetic Analysis of Cases with Ectodermal Dysplasia
- Clinical, genetic, epidemiologic, evolutionary, and functional delineation of <em>TSPEAR</em>-related autosomal recessive ectodermal dysplasia 14
- Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14
- Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease
- Congenital diaphragmatic hernia and early lethality in PIGL-related disorder
- Congenital Hypopigmentary Disorders with Multiorgan Impairment: A Case Report and an Overview on Gray Hair Syndromes
- Cutaneous squamous cell carcinoma in an autosomal-recessive Adams-Oliver syndrome patient with a novel frameshift pathogenic variant in the EOGT gene
- De novo triplication at 1p36.23p36.22 further refines the dosage sensitive region of overlap in Setleis syndrome (focal facial dermal dysplasia type III)
- Deleterious Variants in <em>WNT10A</em>, <em>EDAR,</em> and <em>EDA</em> Causing Isolated and Syndromic Tooth Agenesis: A Structural Perspective from Molecular Dynamics Simulations
- Dental Phenotype with Minor Ectodermal Symptoms Suggestive of <em>WNT10A</em> Deficiency
- Dental Phenotype with Minor Ectodermal Symptoms Suggestive of WNT10A Deficiency
- Diagnosis of Papillon-Lefèvre syndrome: review of the literature and a case report
- Different degree of loss-of-function among four missense mutations in the EDAR gene responsible for autosomal recessive hypohidrotic ectodermal dysplasia may be associated with the phenotypic severity
- Diseases related to Notch glycosylation
- Ectodermal dysplasia-skin fragility syndrome: Two new cases and review of this desmosomal genodermatosis
- Ectodysplasin pathogenic variants affecting the furin-cleavage site and unusual clinical features define X-linked hypohidrotic ectodermal dysplasia in India
- EDA, EDAR, EDARADD and WNT10A allelic variants in patients with ectodermal derivative impairment in the Spanish population
- Ellis van creveld syndrome: Cardiac anomalies and anesthetic implications
- Ellis-van Creveld syndrome in a neonate: a case report
- Ellis-van Creveld syndrome in a patient from Tanzania
- Ellis-van Creveld syndrome: Report of a case and recurrent variant
- Epidermolysis Bullosa With Pyloric Stenosis: A Novel Lethal Variant
- Establishment of a human induced pluripotent stem cell line (SDQLCHi079-A) from a patient with Johanson-Blizzard syndrome carrying heterozygous mutation in UBR1 gene
- Expression Profiling Identifies TWIST2 Target Genes in Setleis Syndrome Patient Fibroblast and Lymphoblast Cells
- First case reported of COVID-19 infection in an adult patient with Ellis-van Creveld Syndrome
- First Report of a Known Pathogenic Variant in the <em>FZD6</em> Gene, in an Iranian Family with Recessive Nail Dysplasia: A Case Report
- First Report of a Known Pathogenic Variant in the FZD6 Gene, in an Iranian Family with Recessive Nail Dysplasia: A Case Report
- First Report of Spinal Anesthesia for Cesarean Delivery in a Parturient With Jeune Syndrome: A Case Report
- Functional studies for a dominant mutation in the EDAR gene responsible for hypohidrotic ectodermal dysplasia
- Generation and Characterization of a CRISPR/Cas9-Mediated <em>SNAP29</em> Knockout in Human Fibroblasts
- Homozygous variants of EDAR underlying hypohidrotic ectodermal dysplasia in three consanguineous families
- Hypohidrotic ectodermal dysplasia with autosomal recessive inheritance pattern: Report of a rare and unusual case with a brief review of literature
- Hypohidrotic ectodermal dysplasia: A rare entity
- Identification of Compound Heterozygous <em>EVC2</em> Gene Variants in Two Mexican Families with Ellis-van Creveld Syndrome
- Interfamilial clinical variability in four Polish families with cranioectodermal dysplasia and identical compound heterozygous variants in WDR35
- Intrafamilial phenotypic variability in autosomal recessive DOCK6-related Adams-Oliver syndrome
- Johanson-Blizzard Syndrome: A Case Report From Bahrain With a Literature Review
- Johanson-Blizzard's Syndrome with a Novel <em>UBR1</em> Mutation
- Kohlschütter-Tönz syndrome: Case report with novel feature and detailed review of features associated with ROGDI variants
- Lateral Thoracic Expansion for Jeune's Syndrome, Surgical Approach, and Technical Details
- Lessons to Learn About the Misdiagnosis of a Rare Case in China: Bart Syndrome or Carmi Syndrome?
- Molecular basis and genetics of hypohidrotic ectodermal dysplasias
- Molecular basis of ciliary defects caused by compound heterozygous IFT144/WDR19 mutations found in cranioectodermal dysplasia
- Molecular Basis of Hereditary Hair Diseases
- Monoallelic and biallelic variants in LEF1 are associated with a new syndrome combining ectodermal dysplasia and limb malformations caused by altered WNT signaling
- Mutation update: The spectra of PLEC sequence variants and related plectinopathies
- Mutations in GRK2 cause Jeune syndrome by impairing Hedgehog and canonical Wnt signaling
- Natural history and genetic spectrum of the Turkish metaphyseal dysplasia cohort, including rare types caused by biallelic COL10A1, COL2A1, and LBR variants
- Next generation sequencing panel target genes: possible diagnostic tool for ectodermal dysplasia related diseases
- 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 EDA mutations cause X-linked hypohidrotic ectodermal dysplasia: the first study from Venezuela
- Novel homozygous deletion of the plakophilin-1 gene in a Chinese patient with ectodermal dysplasia-skin fragility syndrome
- Novel insight into the ectodermal dysplasia 11A: Splicing variant of the EDARADD gene in a family with clinical variability and literature review
- Novel missense alteration in LRP4 gene underlies Cenani-Lenz syndactyly syndrome in a consanguineous family
- Novel ORAI1 Mutation Disrupts Channel Trafficking Resulting in Combined Immunodeficiency
- Peripheral odontogenic fibroma in a child with Ellis-van Creveld syndrome: Case report
- Prenatal Genetic Testing for X-Linked Hypohidrotic Ectodermal Dysplasia
- Prenatal Treatment of X-Linked Hypohidrotic Ectodermal Dysplasia using Recombinant Ectodysplasin in a Canine Model
- Prophylactic Decompression for Cervical Stenosis in Jeune Syndrome: Report From a Single Institution
- Rare clinical features of the Ellis van Creveld syndrome: A case report and literature review
- Repair of double orifice mitral valve with an atrioventricular septal defect in a girl with Ellis-Van Creveld syndrome
- Report of two siblings with APECED in Serbia: is there a founder effect of c.769C>T AIRE genotype?
- Resolved Severe Primary Hypothyroidism in Sensenbrenner Syndrome Post Hepatorenal Transplantation: A Case Report
- RIPK4 regulates cell-cell adhesion in epidermal development and homeostasis
- Role of primary cilia and Hedgehog signaling in craniofacial features of Ellis-van Creveld syndrome
- Severe forms of Johanson-Blizzard syndrome caused by two novel compound heterozygous variants in UBR1: Clinical manifestations, imaging findings and molecular genetics
- Skeletal ciliopathies: a pattern recognition approach
- Structural and functional foot disorders in patients with genodermatoses: a single-centre, retrospective chart review
- Surgical Correction of Cardiac Defects with Ellis Van Crevald Syndrome - A Rare Case Report
- The first reported case of <em>CDH3</em>-related hypotrichosis with juvenile macular dystrophy from Jordan: a case report
- TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study
- Turkish Ectodermal Dysplasia Cohort: From Phenotype to Genotype in 17 Families
- Update of recent findings in genetic hair disorders
- Widespread aplasia cutis congenita in sibs with PLEC1 and ITGB4 variants
- WNT10A, dermatology and dentistry
- Yunis-Varon Syndrome