Research By Disease – CheckOrphan

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 WDR35 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 TSPEAR-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 WNT10A, EDAR, and EDA Causing Isolated and Syndromic Tooth Agenesis: A Structural Perspective from Molecular Dynamics Simulations
Dental Phenotype with Minor Ectodermal Symptoms Suggestive of WNT10A 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 FZD6 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 SNAP29 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 EVC2 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 UBR1 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 CDH3-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