• 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 case of novel NFKB2 variant with hypertensive emergency and nephrotic syndrome leading to CKD 5D
• A case of pachyonychia congenita with a hotspot variant at Arg127 in KRT16: Disease severity assessment using AlphaMissense technology
• A Child with a Congenital Aplasia of the Scalp: A Quiz
• A digital workflow for tooth-supported complete overdentures with a composite resin injection technique to manage the treatment of a child with ectodermal dysplasia
• A Family with EEC Syndrome in the Son and ADULT Syndrome in His Father Caused by the c.797G&gt;A (p.Arg266Gln) Pathogenic Variant in the <em>TP63</em> Gene
• 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 missense mutation in the highly conserved TNF-like domain of Ectodysplasin A is the candidate causative variant for X-linked hypohidrotic ectodermal dysplasia in Limousin cattle: Clinical, histological, and molecular analyses
• A Novel Ectodysplasin a Gene mutation of X-Linked Hypohidrotic Ectodermal Dysplasia
• 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 Rare Presentation of Postaxial Polydactyly in a 2-Year-Old Female with Ellis-van Creveld Syndrome
• A recurrent missense mutation in the KRT16 gene causing pachyonychia congenita in a patient
• A spectrum of TP63-related disorders with eight affected individuals in five unrelated families
• Activation of wnt/beta-catenin signaling pathway down regulated osteogenic differentiation of bone marrow-derived stem cells in an anhidrotic ectodermal dysplasia patient with EDA/EDAR/EDARADD mutation
• Activation of wnt/β-catenin signaling pathway down regulated osteogenic differentiation of bone marrow-derived stem cells in an anhidrotic ectodermal dysplasia patient with <em>EDA/EDAR/EDARADD</em> mutation
• Aplasia cutis congenita type VII of the lower extremity: a favourable disease course with minimal conservative treatment
• Apocrine Hidrocystoma
• Application of digital virtual simulated design in the prosthodontic rehabilitation of a child with a novel EDA mutation in ectodermal dysplasia: A clinical report
• Atypical presentation of ACCES syndrome resembling dominant Spondyloepiphyseal dysplasia tarda
• Bart syndrome: A case report of neonatal disorder
• Botanical extract combined with minoxidil improve hidrotic ectodermal dysplasia caused by p.G11R mutations: a case report
• Case Report: Dental Findings Can Aid in Early Diagnosis of APECED Syndrome
• Characterization of a New Variant in <em>ARHGAP31</em> Probably Involved in Adams-Oliver Syndrome in a Family with a Variable Phenotypic Spectrum
• 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
• Clinical features and genetic analysis of a case series of skeletal ciliopathies in a prenatal setting
• 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, Immunological, and Genetic Features in Patients with NFKB1 and NFKB2 Mutations: a Systematic Review
• Compound heterozygous WNT10A missense variations exacerbated the tooth agenesis caused by hypohidrotic ectodermal dysplasia
• Congenital nail abnormalities
• Craniofacial syndromes and class III phenotype: common genotype fingerprints? A scoping review and meta-analysis
• Dentofacial manifestations of a Paediatric patient with Goltz-Gorlin Syndrome
• Double crown removable partial denture for a patient with ectodermal dysplasia: A clinical report after 31 years
• Ectodermal Dysplasia - An Overview and Update
• Ectodermal dysplasia and cholesteatoma: A cross-sectional analysis of otologic issues
• Ectodermal dysplasia-skin fragility syndrome - identification of a novel plakophilin1 (PKP1) gene variant through whole exome sequencing
• Ectrodactyly Ectodermal Dysplasia Cleft Lip (EEC) Syndrome
• EDA Missense Variant in a Cat with X-Linked Hypohidrotic Ectodermal Dysplasia
• Effect of deletion of the protein kinase PRKD1 on development of the mouse embryonic heart
• Eight EDA mutations in Chinese patients with tooth agenesis and genotype-phenotype analysis
• Ellis-van Creveld syndrome: a case report
• Encephalocraniocutaneous Lipomatosis: A Case Report
• Establishment of a human induced pluripotent stem cell line (SDQLCHi079-A) from a patient with Johanson-Blizzard syndrome carrying heterozygous mutation in UBR1 gene
• Expanding the phenotypic spectrum of NOTCH1 variants: clinical manifestations in families with congenital heart disease
• Expansion of the complex genotypic and phenotypic spectrum of FGFR2-associated neurocutaneous syndromes
• HELIX Syndrome, a Claudinopathy with Relevant Dermatological Manifestations: Report of Two New Cases
• Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies
• Hyperpigmented Flexural Plaques, Hypohidrosis, and Hypotrichosis
• Hypohidrotic ectodermal dysplasia in a family: expanding spectrum of LEF-1 related disorders
• Hypohidrotic Ectodermal Dysplasia: Classical Clinical Features
• Identification of a Novel TP63 Variant in a Chinese Patient with Orofacial Clefts and Ectrodactyly: Case Report and Literature Review
• Identification of six novel mutations in EDA from 20 hypohidrotic ectodermal dysplasia families
• Improving the Quality of Life in Patients With Hypohidrotic Ectodermal Dysplasia: A Holistic Approach
• Intubation in a Case of Ectodermal Dysplasia During Surgery: A Case Report
• Large skin defect in Type V aplasia cutis congenita treated with conservative treatment: a case report
• Like Father, Like Daughter - Ectodermal Dysplasia-Syndactyly Syndrome: A Case Report
• Melanoma of the central nervous system based on neurocutaneous melanocytosis in childhood: A rare but fatal condition
• Mexican patient with Ellis-van Creveld syndrome and cleft palate: Importance of functional hemizygosity and phenotype expansion
• Missense mutation of NRAS is associated with malignant progression in neurocutaneous melanosis
• Molecular basis and genetics of hypohidrotic ectodermal dysplasias
• Multidisciplinary team for patients with neurocutaneous syndromes: The little discussed importance of dentistry
• Multiple human papillomavirus-associated plantar epidermoid cysts
• Novel homozygous frameshift insertion variant in the last exon of the EDARADD causing hypohidrotic ectodermal dysplasia in two siblings: case report and review of the literature
• Ocular Manifestations in Patients Affected by p63-Associated Disorders: Ectrodactyly-Ectodermal Dysplasia-Clefting (EEC) and Ankyloblepharon-Ectodermal Defects-Cleft Lip Palate (AEC) Syndromes
• Oligodontia in the Clinical Spectrum of Syndromes: A Systematic Review
• Pediatric Neuro-oncology
• Peripheral giant cell granuloma in a child with ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome: a case report
• PHACE syndrome: not always 'tilting telephones' and Dandy-Walker malformations…
• PHACES syndrome and multi-regional odontodysplasia: a case report
• Phakomatosis Pigmentovascularis: A Rare Disease
• Plakophilin 1 in carcinogenesis
• Port-wine stain associated with membranous aplasia cutis congenita and hair collar sign
• Postmortem 7T MRI in Goltz-Gorlin Syndrome: Insights into fetal anomalies beyond conventional imaging techniques
• Prenatal sonographic evidence of hypohidrotic ectodermal dysplasia and postnatal genetic testing of a family line of child
• Prevalence and Patient Characteristics of Ectodermal Dysplasias in Denmark
• Prevalence rates for ectodermal dysplasia syndromes
• PRKD1-related telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome: Case report and review of the literature
• Punctal Atresia As a Clinical Indicator of Systemic Genetic Anomalies
• Rare diseases: we need to think about climate change too
• Rare Pediatric Genetic Case Report of X-linked Hypohidrotic Ectodermal Dysplasia Type 1
• RASopathies for Radiologists
• Reconstruction of a large scalp defect secondary to a rare cutaneous metastasis from urothelial bladder carcinoma using intact fish skin xenografts
• Regional odontodysplasia diagnosed and treated <em>via</em> multidisciplinary approach: a case report
• Rehabilitation of Ectodermal Dysplasia Using CAD/CAM Mandibular Complete Denture and Maxillary Overdenture: A Clinical Report
• Rehabilitation of Severely Atrophic Maxilla with Le Fort I Advancement Surgery and Subperiosteal Implant in a Patient With Ectodermal Dysplasia
• Retinal arteriovenous malformation in Wyburn-Mason syndrome
• Short-Term Effects of Gamma Stimulation on Neuroinflammation at the Tissue-Electrode Interface in Motor Cortex
• The Cardiofaciocutaneous Syndrome: From Genetics to Prognostic-Therapeutic Implications
• The oligodontia phenotype in a X-linked hypohidrotic ectodermal dysplasia patient with a novel <em>EVC2</em> variant
• Three-Dimensional Modeling and Quantitative Assessment of Mandibular Volume in Ectodermal Dysplasia: A Case Series
• Tooth agenesis related to a novel KDF1 variant: A case report and literature review
• Transcription factor FoxO1 regulates myoepithelial cell diversity and growth
• Treatment strategy for patient with non-syndromic tooth agenesis: a case report and literature review
• Trichoscopic findings in neonatal alopecia in oro-facial-digital syndrome type 1
• Understanding the effects of per- and polyfluoroalkyl substances on early skin development: Role of ciliogenesis inhibition and altered microtubule dynamics
• X-linked genodermatoses from diagnosis to tailored therapy
• X-linked hypohidrotic ectodermal dysplasia with a deletion in exon 2 of the EDA gene: a case report and literature review