Disease: Ectodermal dysplasia- hidrotic- Christianson-Fourie type
- A case of MBTPS1-related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype-phenotype expansion and the emergence of a novel syndrome
- A genotype-phenotype correlation in split-hand/foot malformation type 1: further refinement of the phenotypic subregions within the 7q21.3 locus
- A man, a syndrome, a gene: Clouston's hidrotic ectodermal dysplasia (HED)
- A newborn with ectrodactyly, tetralogy of Fallot, esophageal atresia, hypospadias and TP63 gene mutation: A new type of EEC Syndrome?
- 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 novel variant in the GJB6 gene in a large Chinese family with a unique phenotype of Clouston syndrome
- A patient with alopecia, nail dystrophy, palmoplantar hyperkeratosis, keratitis, hearing difficulty and micrognathia without GJB2 or GJB6 mutations: a new type of hidrotic ectodermal dysplasia?
- A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report
- An Atypical Incontinentia Pigmenti Female with Persistent Mucocutaneous Hyperinflammation and Immunodeficiency Caused by a Novel Germline IKBKG Missense Mutation
- Antibody gene transfer treatment drastically improves epidermal pathology in a keratitis ichthyosis deafness syndrome model using male mice
- Aplasia Cutis Congenita of the Scalp with Bone Defect and Exposed Sagittal Sinus in Trisomy 13 Newborn - a Case Report
- Aplasia cutis congenita type VII of the lower extremity: a favourable disease course with minimal conservative treatment
- Case report: ADULT syndrome: a rare case of congenital lacrimal duct abnormality
- Characterization of a New Variant in <em>ARHGAP31</em> Probably Involved in Adams-Oliver Syndrome in a Family with a Variable Phenotypic Spectrum
- Clinical and Molecular Genetic Analysis of Cases with Ectodermal Dysplasia
- Clinical presentation and genetics of tricho-rhino-phalangeal syndrome (TRPS) type 1: A single-center case series of 15 patients and seven novel TRPS1 variants
- Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome
- Clinical, genetic, epidemiologic, evolutionary, and functional delineation of <em>TSPEAR</em>-related autosomal recessive ectodermal dysplasia 14
- Clinical, Immunological, and Genetic Features in Patients with NFKB1 and NFKB2 Mutations: a Systematic Review
- Clouston syndrome: first case in Russia
- Commonly Associated Disorders with Complete Scalp Alopecia in Early Childhood: A Review
- Compound heterozygous WNT10A missense variations exacerbated the tooth agenesis caused by hypohidrotic ectodermal dysplasia
- Connexin30 mutations responsible for hidrotic ectodermal dysplasia cause abnormal hemichannel activity
- Correspondence Concerning PTPN11 Mosaicism Causes a Spectrum of Pigmentary and Vascular Neurocutaneous Disorders and Predisposes to Melanoma
- Cosmetic and functional results after resection of cutaneous neurofibroma in neurofibromatosis type 1 : Operation of neurofibroma improves quality of life while having moderate complications
- De novo triplication at 1p36.23p36.22 further refines the dosage sensitive region of overlap in Setleis syndrome (focal facial dermal dysplasia type III)
- Defective NaCl Reabsorption in Salivary Glands of Eda-Null X-LHED Mice
- Detection of human papillomavirus type 10 DNA in eccrine syringofibroadenomatosis occurring in Clouston's syndrome
- Ectodermal Dysplasia - An Overview and Update
- Expansion of the complex genotypic and phenotypic spectrum of FGFR2-associated neurocutaneous syndromes
- Hereditary ectodermal dysplasia: a case report
- Hidrotic ectodermal dysplasia in a Chinese pedigree: A case report
- Hypohidrotic ectodermal dysplasia: A rare entity
- Identification of six novel mutations in EDA from 20 hypohidrotic ectodermal dysplasia families
- Implants as a treatment alternative in children with multiple agnesia: Systematic review and meta-analysis
- Large skin defect in Type V aplasia cutis congenita treated with conservative treatment: a case report
- Late-onset eccrine syringofibroadenoma of the feet in a patient with hypohidrotic ectodermal dysplasia
- Mechanistic effect of the human GJB6 gene and its mutations in HaCaT cell proliferation and apoptosis
- Multidisciplinary team for patients with neurocutaneous syndromes: The little discussed importance of dentistry
- Neurocutaneous Disorders in Pregnancy
- Neurocutaneous Syndromes, Perinatal Factors, and the Risk of Childhood Cancer in Sweden
- Neurofibromatosis type1, type 2, tuberous sclerosis and Von Hippel-Lindau disease
- NOTCH1 loss of the TAD and PEST domain: An antimorph?
- Orthodontic and dentofacial orthopedic treatments in patients with ectodermal dysplasia: a systematic review
- Prosthodontic Management of a Patient with Ectodermal Dysplasia: Case Report
- Proteomic profiling reveals KRT6C as a probable hereterodimer partner for KRT9: New insights into re-classifying epidermolytic palmoplantar keratoderma (EPPK) and a milder form of pachyonychia congenita (PC-K6c) as a group of genetic cutaneous disorders
- Psychosocial and behavioural impact of three clinical presentations of oligodontia in a tertiary hospital
- Rare Pediatric Genetic Case Report of X-linked Hypohidrotic Ectodermal Dysplasia Type 1
- RASopathies for Radiologists
- The Cardiofaciocutaneous Syndrome: From Genetics to Prognostic-Therapeutic Implications
- The gene responsible for Clouston hidrotic ectodermal dysplasia maps to the pericentromeric region of chromosome 13q
- Trichorhinophalangeal Syndrome
- Trichoscopic findings in neonatal alopecia in oro-facial-digital syndrome type 1
- Two homozygous KRT85 mutations in a Chinese patient with pure hair and nail ectodermal dysplasia
- X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED): A Case Report and Overview of the Diagnosis and Multidisciplinary Modality Treatments