Ectodermal Dysplasia

Hypodontia and nail dysplasia syndrome Report of a case

Humans / Female / Adult / Syndrome / Anodontia / Ectodermal Dysplasia

Gene defect in ectodermal dysplasia implicates a death domain adapter in development

Membrane Proteins / Gene expression / Multidisciplinary / Nature / Signal Transduction / Cell line / Humans / Mutation / Mice / Animals / NF-kappa B / Amino Acid Sequence / Protein Binding / Ectodermal Dysplasia / Death Domain / Molecular Sequence Data / Cell line / Humans / Mutation / Mice / Animals / NF-kappa B / Amino Acid Sequence / Protein Binding / Ectodermal Dysplasia / Death Domain / Molecular Sequence Data

Anhidrotic ectodermal dysplasia gene region cloned in yeast artificial chromosomes

Information Systems / Genetics / Genomics / Humans / Female / Polymerase Chain Reaction / Genetic Map / Genes / Human Genome / Hybrid Solar Cells / Genomic DNA / Skin Disease / X chromosome / Base Sequence / Genetic Markers / DNA marker / Ectodermal Dysplasia / Somatic Cells / Molecular Sequence Data / Polymerase Chain Reaction / Genetic Map / Genes / Human Genome / Hybrid Solar Cells / Genomic DNA / Skin Disease / X chromosome / Base Sequence / Genetic Markers / DNA marker / Ectodermal Dysplasia / Somatic Cells / Molecular Sequence Data

Ectrodactyly, Ectodermal Dysplasia with Cleft Palate: A Case Report

Ectodermal Dysplasia

Cranioectodermal dysplasia: A probable ciliopathy

Genetics / Pregnancy / Humans / Child / Female / Siblings / Clinical Sciences / Cilia / Ectodermal Dysplasia / Siblings / Clinical Sciences / Cilia / Ectodermal Dysplasia

Hypohidrotic Ectodermal Dysplasia and Intrathoracic Neuroblastoma

Obesity / Humans / Child / Hair / Female / Fever of Unknown Origin / Pediatric / Neuroblastoma / Pediatric dermatology / Ectodermal Dysplasia / Sweat glands / Fever of Unknown Origin / Pediatric / Neuroblastoma / Pediatric dermatology / Ectodermal Dysplasia / Sweat glands

Craniofacial anthropometric pattern profile in hypohidrotic ectodermal dysplasia--application in detection of gene carriers

Anthropology / Cephalometry / Humans / Female / Male / Anodontia / Ectodermal Dysplasia / Anodontia / Ectodermal Dysplasia

Cortical periventricular heterotopia with ectodermal dysplasia

Genetics / Magnetic Resonance Imaging / Humans / Child / Cerebral Cortex / Female / Male / American / Clinical Sciences / Family Health / Syndrome / Contractile Proteins / Ectodermal Dysplasia / Female / Male / American / Clinical Sciences / Family Health / Syndrome / Contractile Proteins / Ectodermal Dysplasia

Embryonic stem cells as an ectodermal cellular model of human p63-related dysplasia syndromes

Human Embryonic Stem Cells / Transcription Factors / Humans / Mice / Animals / Embryonic Stem Cell / Skin / Embryonic Stem Cells / Biochemical / Transcription Factor / Cellular Automaton Model / Biochemistry and cell biology / Ectodermal Dysplasia / ES cell / Gene expression profiling / Embryonic Stem Cell / Skin / Embryonic Stem Cells / Biochemical / Transcription Factor / Cellular Automaton Model / Biochemistry and cell biology / Ectodermal Dysplasia / ES cell / Gene expression profiling

Congenital immune deficiency states and ectodermal disease

Pediatrics / Humans / Ectodermal Dysplasia

Ectodermal dysplasias: a new clinical-genetic classification

Genetics / Medical Genetics / Dermatology / Molecular Genetics / Biological Sciences / Mental Retardation / Humans / Classification / Phenotype / Genetic linkage analysis / Genes / Genotype / Clinical Signs / Ectodermal Dysplasia / Mental Retardation / Humans / Classification / Phenotype / Genetic linkage analysis / Genes / Genotype / Clinical Signs / Ectodermal Dysplasia

Otodental syndrome: three familial case reports

Dentistry / Case Report / Humans / Child / Female / Male / Malocclusion / Follow-up studies / Mandible / Maxilla / Pediatric dentistry / Pediatric Dentistry / Syndrome / Ectodermal Dysplasia / Male / Malocclusion / Follow-up studies / Mandible / Maxilla / Pediatric dentistry / Pediatric Dentistry / Syndrome / Ectodermal Dysplasia

Aplasia cutis congenita, polythelia, microcephaly, and developmental delay: A unique expression of polytopic field defect involving possible ?paradominant? inheritance?

Genetics / Humans / Child / Microcephaly / Developmental disabilities / Clinical Sciences / Part / A / Syndrome / Ectodermal Dysplasia / Scalp / Medical / Clinical Sciences / Part / A / Syndrome / Ectodermal Dysplasia / Scalp / Medical

Prosthetic Management of an Ectodermal Dysplasia: A Case Report

Dental / Removable Prosthodontics / Ectodermal Dysplasia

Craniofacial anthropometric pattern profile in hypohidrotic ectodermal dysplasia - Application in detection of gene carriers

Anthropology / Cephalometry / Humans / Female / Male / Anodontia / Ectodermal Dysplasia / Anodontia / Ectodermal Dysplasia

Síndrome cardiofaciocutáneo, un trastorno relacionado con el síndrome de Noonan: hallazgos clínicos y moleculares en 11 pacientes

Intellectual Disability / Congenital Heart Defects / Humans / Child / Hair / Female / Male / Infant / Skin / Cryptorchidism / Dwarfism / Facies / Noonan syndrome / Amino Acid Substitution Rates / Medicina Clinica / K Map / Ectodermal Dysplasia / DNA mutational analysis / Child preschool / genetic heterogeneity / Female / Male / Infant / Skin / Cryptorchidism / Dwarfism / Facies / Noonan syndrome / Amino Acid Substitution Rates / Medicina Clinica / K Map / Ectodermal Dysplasia / DNA mutational analysis / Child preschool / genetic heterogeneity

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