Disease: Aplasia cutis congenita recessive
- A Missense Mutation in the Collagen Triple Helix of <em>EDA</em> Is Associated with X-Linked Recessive Hypohidrotic Ectodermal Dysplasia in Fleckvieh Cattle
- A Missense Mutation in the Collagen Triple Helix of EDA Is Associated with X-Linked Recessive Hypohidrotic Ectodermal Dysplasia in Fleckvieh Cattle
- A new variant of the ectodysplasin A receptor death domain gene associated with anhidrotic ectodermal dysplasia in a Turkish family and its simple diagnosis by restriction fragment length polymorphism
- 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 missense mutation in the AIRE gene underlying autoimmune polyglandular syndrome type 1
- 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 Nonsense Mutation in NECTIN4 Underlying Ectodermal Dysplasia-Syndactyly Syndrome with a Novel Phenotype in a Consanguineous Kashmiri Family
- Botanical extract combined with minoxidil improve hidrotic ectodermal dysplasia caused by p.G11R mutations: a case report
- Christ-Siemens-Touraine Syndrome: A Report of a Rare Pediatric Case
- 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
- De novo triplication at 1p36.23p36.22 further refines the dosage sensitive region of overlap in Setleis syndrome (focal facial dermal dysplasia type III)
- Dental Phenotype with Minor Ectodermal Symptoms Suggestive of <em>WNT10A</em> Deficiency
- Ellis van creveld syndrome: Cardiac anomalies and anesthetic implications
- Ellis-van Creveld syndrome in a neonate: a case report
- 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
- Hypohidrotic ectodermal dysplasia: A rare entity
- Identification of Compound Heterozygous <em>EVC2</em> Gene Variants in Two Mexican Families with Ellis-van Creveld Syndrome
- 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 Hereditary Hair Diseases
- 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 insight into the ectodermal dysplasia 11A: Splicing variant of the EDARADD gene in a family with clinical variability and literature review
- Peripheral odontogenic fibroma in a child with Ellis-van Creveld syndrome: Case report
- Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis