Disease: Ectodermal dysplasia
- 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 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>A (p.Arg266Gln) Pathogenic Variant in the <em>TP63</em> Gene
- A genotype-phenotype correlation in split-hand/foot malformation type 1: further refinement of the phenotypic subregions within the 7q21.3 locus
- 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 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 missense mutation in the AIRE gene underlying autoimmune polyglandular syndrome type 1
- A rare case of congenital insensitivity to pain with anhidrosis
- 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 Recurrent Nonsense Mutation in NECTIN4 Underlying Ectodermal Dysplasia-Syndactyly Syndrome with a Novel Phenotype in a Consanguineous Kashmiri Family
- 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
- An atypical case of incontinentia pigmenti with a hypomorphic variant
- An Atypical Incontinentia Pigmenti Female with Persistent Mucocutaneous Hyperinflammation and Immunodeficiency Caused by a Novel Germline IKBKG Missense Mutation
- 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
- Aplasia cutis på nyfødt med komplet opheling inden for to uger
- Bart syndrome: A case report of neonatal disorder
- Basan syndrome in family from South-India: A novel SMARCAD1 variant
- Case report: ADULT syndrome: a rare case of congenital lacrimal duct abnormality
- Case Report: Dental Findings Can Aid in Early Diagnosis of APECED Syndrome
- Case Report: Papillary thyroid carcinoma in Goltz-Gorlin syndrome
- 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
- Clouston Syndrome: Report of a Jordanian Family with GJB6 Gene Mutation
- 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
- 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
- Disseminated Nontuberculous Mycobacterial Infection in a Tertiary Referral Hospital in South Korea: A Retrospective Observational Study
- Dominant frontonasal dysplasia with ectodermal defects results from increased activity of ALX4
- Ectodermal dysplasia-skin fragility syndrome - identification of a novel plakophilin1 (PKP1) gene variant through whole exome sequencing
- Ectrodactyly Ectodermal Dysplasia Cleft Lip (EEC) Syndrome
- Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome
- Ectrodactyly-ectodermal dysplasia-clefting syndrome. Prenatal prospective ultrasound diagnosis
- 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
- Erratum: Functional and clinical analysis of five <em>EDA</em> variants associated with ectodermal dysplasia but with a hard-to-predict significance
- Expansion of the complex genotypic and phenotypic spectrum of FGFR2-associated neurocutaneous syndromes
- Genome-wide association analysis unveils candidate genes and loci associated with aplasia cutis congenita in pigs
- Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies
- Hyperpigmented Flexural Plaques, Hypohidrosis, and Hypotrichosis
- Hypohidrotic Ectodermal Dysplasia Milia Treatment With Fractional Carbon Dioxide Laser and Laser-Assisted Drug Delivery of Triamcinolone
- Hypohidrotic Ectodermal Dysplasia: A Case Report
- Hypohidrotic Ectodermal Dysplasia: Classical Clinical Features
- Identification of six novel mutations in EDA from 20 hypohidrotic ectodermal dysplasia families
- Incidence of neurocutaneous melanosis in Japanese pediatric patients with congenital melanocytic nevi
- Intubation in a Case of Ectodermal Dysplasia During Surgery: A Case Report
- Isolated retinal astrocytic hamartoma with 7-year follow-up: A case report
- Melanoma of the central nervous system based on neurocutaneous melanocytosis in childhood: A rare but fatal condition
- Missense mutation of NRAS is associated with malignant progression in neurocutaneous melanosis
- Molecular and phenotypic spectrum of cardio-facio-cutaneous syndrome in Chinese patients
- 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
- Multiple rhabdomyomatous mesenchymal hamartomas in a patient with mosaic Barber-Say syndrome
- Neurocutaneous Disorders in Pregnancy
- Neurofibromatosis type1, type 2, tuberous sclerosis and Von Hippel-Lindau disease
- New observation of severe tooth malformation in a female patient with ectodermal dysplasia due to the EDA splice acceptor variant c.742-2A>G
- Ocular Manifestations in Patients Affected by p63-Associated Disorders: Ectrodactyly-Ectodermal Dysplasia-Clefting (EEC) and Ankyloblepharon-Ectodermal Defects-Cleft Lip Palate (AEC) Syndromes
- Ocular phenotype and therapeutic interventions in keratitis-ichthyosis-deafness (KID) syndrome
- Oligodontia in the Clinical Spectrum of Syndromes: A Systematic Review
- Pediatric Neuro-oncology
- PHACE syndrome: not always 'tilting telephones' and Dandy-Walker malformations…
- PHACE(S) SYNDROME - EARLY DIAGNOSTICS IN THE MAXILLOFACIAL AREA
- 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
- PRKD1-related Telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome: case report and review of the literature
- Psychosocial and behavioural impact of three clinical presentations of oligodontia in a tertiary hospital
- Punctal Atresia As a Clinical Indicator of Systemic Genetic Anomalies
- 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
- Retinal arteriovenous malformation in Wyburn-Mason syndrome
- Short anagen hair syndrome: Association with mono- and biallelic variants in WNT10A and a genetic overlap with male pattern hair loss
- Short-Term Effects of Gamma Stimulation on Neuroinflammation at the Tissue-Electrode Interface in Motor Cortex
- Skeletal defects and bone metabolism in Noonan, Costello and cardio-facio-cutaneous syndromes
- Teaching Neuroimage: A Rare Case of Encephalocraniocutaneous Lipomatosis: A Clinico-Radiological Diagnosis
- 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
- The Pachyonychia Congenita Virtual Support Group Meeting: Patient Insights and Pearls
- 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
- Understanding the effects of per- and polyfluoroalkyl substances on early skin development: Role of ciliogenesis inhibition and altered microtubule dynamics
- Who's your data? Primary immune deficiency differential diagnosis prediction via machine learning and data mining of the USIDNET registry
- wnt10a is required for zebrafish median fin fold maintenance and adult unpaired fin metamorphosis
- X-linked genodermatoses from diagnosis to tailored therapy