• A large deletion encompassing exon 2 of the ectodysplasin A (EDA) gene in a British blue crossbred calf with hypohidrotic ectodermal dysplasia
• 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 death domain of EDAR abolishes the interaction with EDARADD and underlies hypohidrotic ectodermal dysplasia
• A novel deletion of exon 4 in the Ectodysplasin A gene associated with X-linked hypohidrotic ectodermal dysplasia
• A Novel Ectodysplasin a Gene mutation of X-Linked Hypohidrotic Ectodermal Dysplasia
• A novel missense mutation p.S305R of EDA gene causes XLHED in a Chinese family
• A Rare Case of Hypohidrotic Ectodermal Dysplasia in a Seven-Year-Old Child
• Abnormal dentition in a boy with incontinentia pigmenti: case report
• Absence of an osteopetrosis phenotype in IKBKG (NEMO) mutation-positive women: A case-control study
• An insight into the genesis of hypohidrotic ectodermal dysplasia in a case report
• An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies
• Christ Siemens Touraine syndrome: A rare case report
• Christ-Siemens-Touraine Syndrome: A Report of a Rare Pediatric Case
• Clinical and Molecular Genetic Analysis of Cases with Ectodermal Dysplasia
• Clinical and molecular study in a child with X-linked hypohidrotic ectodermal dysplasia
• Clinical and molecular study in a family with autosomal dominant hypohidrotic ectodermal dysplasia
• Clinical and oral findings of a patient with Simpson-Golabi-Behmel syndrome
• Coffin-Lowry syndrome in a girl with 46,XX,t(X;11)(p22;p15)dn: Identification of <em>RPS6KA3</em> disruption by whole genome sequencing
• Combined Preimplantation Genetic Testing for Aneuploidy and Monogenic Disease in a Mexican Family Affected by X-linked Hypohidrotic Ectodermal Dysplasia
• Correction of Vertebral Bone Development in Ectodysplasin A1-Deficient Mice by Prenatal Treatment With a Replacement Protein
• Correlation between the phenotypes and genotypes of X-linked hypohidrotic ectodermal dysplasia and non-syndromic hypodontia caused by ectodysplasin-A mutations
• De novo EDA mutations: Variable expression in two Egyptian families
• Defective NaCl Reabsorption in Salivary Glands of Eda-Null X-LHED Mice
• Deleterious Variants in <em>WNT10A</em>, <em>EDAR,</em> and <em>EDA</em> Causing Isolated and Syndromic Tooth Agenesis: A Structural Perspective from Molecular Dynamics Simulations
• Dental and oral anomalies in incontinentia pigmenti: a systematic review
• Dental Implant Therapy for a Child with X-linked Hypohidrotic Ectodermal Dysplasia--Three Decades of Managed Care
• Dental treatment considerations for a pediatric patient with incontinentia pigmenti (Bloch-Sulzberger syndrome)
• Dentofacial manifestations of a Paediatric patient with Goltz-Gorlin Syndrome
• Different degree of loss-of-function among four missense mutations in the EDAR gene responsible for autosomal recessive hypohidrotic ectodermal dysplasia may be associated with the phenotypic severity
• Ectodermal dysplasia in identical twins
• Ectodermal Dysplasia: Management of Knife-Edged Irregular Ridge and Its Rehabilitation with Hybrid Implant Prosthesis
• EDA mutation by exome sequencing in non-syndromic X-linked oligodontia
• EDA, EDAR, EDARADD and WNT10A allelic variants in patients with ectodermal derivative impairment in the Spanish population
• Exome sequencing enables diagnosis of X-linked hypohidrotic ectodermal dysplasia in patient with eosinophilic esophagitis and severe atopy
• Exome sequencing reveals a novel WDR45 frameshift mutation and inherited POLR3A heterozygous variants in a female with a complex phenotype and mixed brain MRI findings
• Familial ectodermal dysplasia: a peers' agony
• First female Korean child with Coffin-Lowry syndrome: a novel variant in RPS6KA3 diagnosed by exome sequencing and a literature review
• First report of X-linked hypohidrotic ectodermal dysplasia with a hemizygous c.1142G &gt; C in the EDA gene: variant of uncertain significance or new pathogenic variant?
• First report of X-linked hypohidrotic ectodermal dysplasia with a hemizygous c.1142G > C in the EDA gene: variant of uncertain significance or new pathogenic variant?
• Focal Dermal Hypoplasia with Osteopathia Striata
• Functional Analysis of Ectodysplasin-A Mutations in X-Linked Nonsyndromic Hypodontia and Possible Involvement of X-Chromosome Inactivation
• Functional and clinical analysis of five <em>EDA</em> variants associated with ectodermal dysplasia but with a hard-to-predict significance
• Functional studies for a dominant mutation in the EDAR gene responsible for hypohidrotic ectodermal dysplasia
• Giant canine with dentine anomalies in oculo-facio-cardio-dental syndrome
• Hereditary hypohidrotic ectodermal dysplasia: report of a rare case
• Homozygous variants of EDAR underlying hypohidrotic ectodermal dysplasia in three consanguineous families
• Hypohidrotic (anhidrotic) ectodermal dysplasia in female twins
• Hypohidrotic ectodermal dysplasia
• Hypohidrotic Ectodermal Dysplasia (ED): A Case Series
• Hypohidrotic ectodermal dysplasia associated with glucose-6-phosphate dehydrogenase deficiency
• Hypohidrotic ectodermal dysplasia with ankylosis of temporomandibular joint and cleft palate: A rare presentation
• Hypohidrotic ectodermal dysplasia: a case report
• Hypohidrotic ectodermal dysplasia: A rare entity
• Hypohidrotic Ectodermal Dysplasia: Breastfeeding Complications Due to Impaired Breast Development
• Hypohidrotic ectodermal dysplasia: clinical and molecular review
• Hypohydrotic Ectodermal Dysplasia in an Indian Family
• Incontinentia pigmenti (Bloch-Sulzberger syndrome)
• Incontinentia Pigmenti; a Rare Multisystem Disorder: Case Report of a 10-Year-Old Girl
• Infantile bilateral glaucoma in a child with ectodermal dysplasia
• Linear lesions: A key dermatological feature of X-linked ectodermal dysplasia in a young girl
• Methylation state of the EDA gene promoter in Chinese X-linked hypohidrotic ectodermal dysplasia carriers
• Missense mutations in EDA and EDAR genes cause dominant syndromic tooth agenesis
• Mutation detection and prenatal diagnosis of XLHED pedigree
• Mutation in the ED1, Ala349Thr in a patient with X-linked hypohidrotic ectodermal dysplasia
• Mutation Screening of the EDA Gene in Seven Chinese Families with X-Linked Hypohidrotic Ectodermal Dysplasia
• Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia
• No evidence for preferential X-chromosome inactivation as the main cause of divergent phenotypes in sisters with X-linked hypohidrotic ectodermal dysplasia
• Non-syndromic tooth agenesis associated with a nonsense mutation in ectodysplasin-A (EDA)
• Novel and Private EDA Mutations and Clinical Phenotypes of Korean Patients with X-Linked Hypohidrotic Ectodermal Dysplasia
• Novel EDA mutation in X-linked hypohidrotic ectodermal dysplasia and genotype-phenotype correlation
• Novel EDA or EDAR Mutations Identified in Patients with X-Linked Hypohidrotic Ectodermal Dysplasia or Non-Syndromic Tooth Agenesis
• Novel EDA p.Ile260Ser mutation linked to non-syndromic hypodontia
• Oligodontia and curly hair occur with ectodysplasin-a mutations
• Optimization of diagnostics and orthodontic treatment planning in children and adolescents with multiply adentia
• Oral phenotype and variation in focal dermal hypoplasia
• Oral rehabilitation of children with ectodermal dysplasia
• Orthognathic surgery in Melnick-Needles syndrome: a review of the literature and report of two siblings
• Phenotype and Genotype Study in a Case of Frontometaphyseal Dysplasia 1
• Prevalence and Patient Characteristics of Ectodermal Dysplasias in Denmark
• Prosthetic rehabilitation of a child with X-linked hypohidrotic ectodermal dysplasia: a case report and 12-month follow-up
• Prosthodontic management of a child with ectodermal dysplasia: a case report
• Prosthodontic Management of a Patient with Ectodermal Dysplasia: Case Report
• Prosthodontic Management of a Pediatric Patient with Christ-Siemens-Touraine Syndrome: A Case Report
• Rare Pediatric Genetic Case Report of X-linked Hypohidrotic Ectodermal Dysplasia Type 1
• Simultaneous Occurence of an Autosomal Dominant Inherited MSX1 Mutation and an X-linked Recessive Inherited EDA Mutation in One Chinese Family with Non-syndromic Oligodontia
• The characterization of hypodontia, hypohidrosis, and hypotrichosis associated with X-linked hypohidrotic ectodermal dysplasia: A systematic review
• The molecular genetics of selective tooth agenesis
• The second deletion mutation in exon 8 of EDA gene in an XLHED pedigree
• Three Variants Affecting Exon 1 of <em>Ectodysplasin A</em> Cause X-Linked Hypohidrotic Ectodermal Dysplasia: Clinical and Molecular Characteristics
• Three Variants Affecting Exon 1 of Ectodysplasin A Cause X-Linked Hypohidrotic Ectodermal Dysplasia: Clinical and Molecular Characteristics
• Two novel mutations in the gene EDAR causing autosomal recessive hypohidrotic ectodermal dysplasia
• Unilateral Focal Dermal Hypoplasia (Goltz Syndrome): Case Report and Literature Review
• Unmasking familial CPX by WES and identification of novel clinical signs
• Whole genome sequencing reveals novel non-synonymous mutation in ectodysplasin A (EDA) associated with non-syndromic X-linked dominant congenital tooth agenesis
• X-linked hypohidrotic ectodermal dysplasia (XLHED): clinical and diagnostic insights from an international patient registry
• X-linked hypohidrotic ectodermal dysplasia by a de novo recurrent variant in a Mexican patient
• X-Linked Hypohidrotic Ectodermal Dysplasia in Crossbred Beef Cattle Due to a Large Deletion in <em>EDA</em>
• X-Linked Hypohidrotic Ectodermal Dysplasia in Crossbred Beef Cattle Due to a Large Deletion in EDA
• X-Linked Hypohidrotic Ectodermal Dysplasia-General Features and Dental Abnormalities in Affected Dogs Compared With Human Dental Abnormalities
• X-Linked Hypohidrotic Ectodermal Dysplasia: New Features and a Novel EDA Gene Mutation