Disease: Aplasia cutis congenita of limbs recessive
- A Case of Adams-Oliver Syndrome
- A cost-effective treatment model in dystrophic epidermolysis bullosa with congenital absence of skin
- A new syndrome in the group of euhidrotic ectodermal dysplasia. Pilodental dysplasia with refractive errors
- A novel homozygous RIPK4 variant in a family with severe Bartsocas-Papas syndrome
- Adams-Oliver Syndrome – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY
- Adams-Oliver syndrome: further evidence of an autosomal recessive variant
- An autosomal recessive ectodermal dysplasia syndrome of hypotrichosis, onychodysplasia, hyperkeratosis, kyphoscoliosis, catartact, and other manifestations
- Aplasia cutis congenita (epitheliogenesis imperfecta) in swine: observations from a large breeding herd
- Aplasia cutis congenita: a report of 12 new families and review of the literature
- Asphyxiating thoracic dystrophy (author's transl)
- Association of ectodermal dysplasia, ectrodactyly, and macular dystrophy: the EEM syndrome
- Association of tetra-amelia, ectodermal dysplasia, hypoplastic lacrimal ducts and sacs opening towards the exterior, peculiar face, and developmental retardation
- Atrichia with papular lesions
- Autosomal recessive anhidrotic ectodermal dysplasia: report of a case and discrimination of diagnostic features
- Brachydactyly and ectodermal dysplasia--is it a new association?
- Chondroectodernal dysplasia in an African child: a case report
- Clinical and molecular genetic characterization of a male patient with Sensenbrenner syndrome (cranioectodermal dysplasia) and biallelic WDR35 mutations
- Clinical and scanning electron microscopic findings in a solitary case of Trichorhinophalangeal syndrome type I
- Confirmation that RIPK4 mutations cause not only Bartsocas-Papas syndrome but also CHAND syndrome
- Congenital absence of teeth: a review with emphasis on inheritance patterns
- Congenital bilateral amastia in a mother and a daughter (author's transl)
- Congenital scalp defects with distal limb anomalies (Adams-Oliver syndrome-McKusick 10030): further suggestion of autosomal recessive inheritance
- Cranioectodermal Dysplasia
- Deletion in the EVC2 gene causes chondrodysplastic dwarfism in Tyrolean Grey cattle
- Diagnostic dilemmas in the short rib-polydactyly syndrome group
- Diagnostic problems in a case with mucometrocolpos, polydactyly, congenital heart disease, and skeletal dysplasia
- Distal Limb Defects and Aplasia Cutis: Adams-Oliver Syndrome
- Ectodermal dysplasia-skin fragility syndrome due to a new homozygous internal deletion mutation in the PKP1 gene
- Ectrodactyly, ectodermal dysplasia, macular degeneration syndrome: a further contribution
- Ellis Van Creveld syndrome
- Ellis van Creveld. Case report
- Ellis-van Creveld syndrome
- Ellis-van Creveld syndrome and profound deafness resulted by sequence variants in the EVC/EVC2 and TMC1 genes
- Ellis-Van Creveld Syndrome in a Neonate
- Ellis-van Creveld syndrome in a patient from Tanzania
- Ellis-van Creveld Syndrome in Grey Alpine Cattle: Morphologic, Immunophenotypic, and Molecular Characterization
- Ellis-van Creveld syndrome with facial hemiatrophy
- Ellis-Van Creveld syndrome with syndrome X--a rare association from the Indian subcontinent
- Ellis-van Creveld syndrome: examination at 15 weeks' gestation
- Ellis-van Creveld syndrome: Report of a case and recurrent variant
- Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort
- Epidermolysis bullosa with congenital absence of skin: Review of the literature
- Epidermolysis Bullosa with Pyloric Atresia
- Exome analysis in clinical practice: expanding the phenotype of Bartsocas-Papas syndrome
- Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene
- Frequent Occurrence of Aplasia Cutis Congenita in Bullous Dermolysis of the Newborn
- From gene to disease; EVC, EVC2, and Ellis-van Creveld syndrome
- Genotype-phenotype correlations on epidermolysis bullosa with congenital absence of skin: A comprehensive review
- Hereditary lymphopenic agammaglobulinemia associated with a distinctive form of short-limbed dwarfism and ectodermal dysplasia
- Identification of a novel mutation in RIPK4 in a kindred with phenotypic features of Bartsocas-Papas and CHAND syndromes
- Identification of one novel mutation in the EVC2 gene in a Chinese family with Ellis-van Creveld syndrome
- Intrafamilial phenotypic variability in a Polish family with Sensenbrenner syndrome and biallelic WDR35 mutations
- Late survival in Ellis-van Creveld syndrome - a case report
- Lethal junctional epidermolysis bullosa with pyloric atresia due to compound heterozygosity for two novel mutations in the integrin β4 gene
- Limb pterygium syndromes: a review and report of eleven patients
- Molecular and clinical analysis of Ellis-van Creveld syndrome in the United Arab Emirates
- Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis
- Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short-rib polydactyly type I, Saldino-Noonan type
- Nectinopathies: an emerging group of ectodermal dysplasia syndromes
- New autosomal recessive form of amelia
- New case of an EEC-like syndrome in twins
- New mutations in DYNC2H1 and WDR60 genes revealed by whole-exome sequencing in two unrelated Sardinian families with Jeune asphyxiating thoracic dystrophy
- 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 homozygous mutations in the EVC and EVC2 genes in two consanguineous families segregating autosomal recessive Ellis-van Creveld syndrome
- Novel missense alteration in LRP4 gene underlies Cenani-Lenz syndactyly syndrome in a consanguineous family
- Novel missense mutation in the EDA1 gene identified in a family with hypohidrotic ectodermal dysplasia
- Oral manifestations of Ellis-van Creveld syndrome
- Orthopaedic manifestations of chondroectodermal dysplasia: the Ellis-van Creveld syndrome
- Pigmentosum retinis and tubulo-interstitial nephronophtisis in Sensenbrenner syndrome: a case report
- Prenatal sonographic diagnosis of ellis-van creveld syndrome
- Prenatal Treatment of X-Linked Hypohidrotic Ectodermal Dysplasia using Recombinant Ectodysplasin in a Canine Model
- Rare clinical features of the Ellis van Creveld syndrome: A case report and literature review
- Recessive aplasia cutis congenita of the limbs
- Recessive dystrophic epidermolysis bullosa: presentation of two forms
- Rickets-like genetic diseases
- Rothmund-Thomson syndrome
- Skeletal ciliopathies: a pattern recognition approach
- Skeletal histopathology in fetuses with chondroectodermal dysplasia (Ellis-van Creveld syndrome)
- The disrupted balance between hair follicles and sebaceous glands in Hoxc13-ablated rabbits
- Topical sucralfate cream treatment for aplasia cutis congenita with dystrophic epidermolysis bullosa: a case study
- Two novel heterozygous mutations of EVC2 cause a mild phenotype of Ellis-van Creveld syndrome in a Chinese family
- Type 1 diabetes in a patient with Ellis-van Creveld syndrome
- Type III shortrib-polydactyly syndrome (Verma-Naumoff) in concomitance with ectodermal dysplasia (author's transl)
- Ultrasound diagnosis of recurring Jeune's syndrome: a case report
- Unusual pattern of inheritance and orodental changes in the Ellis-van Creveld syndrome
- Urogenital and caudal dysgenesis in adrenocortical dysplasia (acd) mice is caused by a splicing mutation in a novel telomeric regulator
- X-Linked Hypohidrotic Ectodermal Dysplasia in Crossbred Beef Cattle Due to a Large Deletion in <em>EDA</em>