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Journal of Biological Chemistry, ISSN 0021-9258, 02/2014, Volume 289, Issue 7, pp. 4273 - 4285
Journal Article
Cornea, ISSN 0277-3740, 07/2016, Volume 35, Issue 7, pp. 1026 - 1028
Journal Article
06/2011
Molecular defects in the p63 gene give rise to severe physiological abnormalities in patients with ectodermal dysplasia, however the mechanisms by which p63... 
Itch | EEC | 0487 | PERP | Ectodermal Dysplasia | p53 Family | Protein Stability | p63 | Transactivation
Dissertation
Journal of Glaucoma, ISSN 1057-0829, 04/2019, Volume 28, Issue 4, pp. e58 - e60
Ectodermal dysplasia (ED) is a disorder that occurs due to abnormalities of ectodermal structures such as skin, teeth, hair, nails, and eccrine glands.... 
trabeculotomy | ectodermal dysplasia | infantile glaucoma | hypohidrotic ectodermal dysplasia | trabeculectomy | glaucoma drainage devices | OPHTHALMOLOGY | Glaucoma | Trabeculectomy | Care and treatment | Usage | Research | Drainage, Surgical | Ectodermal dysplasia
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 04/2018, Volume 378, Issue 17, pp. 1604 - 1610
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2009, Volume 124, Issue 6, pp. 1311 - 1318.e7
Background Defects in the development or activation of T cells result in immunodeficiency associated with severe infections early in life. T-cell activation... 
Allergy and Immunology | calcium channel | store-operated Ca | signal transduction | anhydrotic ectodermal dysplasia | T cells | CRAC | amelogenesis imperfecta | dental enamel | entry | STIM1 | ORAI1 | immunodeficiency | congenital myopathy | ACTIVATED CALCIUM-CHANNELS | IMMUNE-DEFICIENCY | IMMUNOLOGY | T-CELL IMMUNODEFICIENCY | MICE LACKING | SKELETAL-MUSCLE | INFLUX | ALLERGY | Ca2 | store-operated Ca2+ entry | MUTATION | PORE SUBUNIT | CRAC CHANNEL | Immunologic Deficiency Syndromes - pathology | Cell Adhesion Molecules - genetics | Frameshift Mutation | Calcium Channels - metabolism | Calcium - metabolism | Humans | Mutation, Missense | Neoplasm Proteins - metabolism | Ectodermal Dysplasia - metabolism | Transfection | Ectodermal Dysplasia - pathology | Membrane Proteins - metabolism | Neoplasm Proteins - genetics | Calcium Channels - genetics | Stromal Interaction Molecule 1 | ORAI2 Protein | Membrane Proteins - genetics | Muscular Diseases - metabolism | Stromal Interaction Molecule 2 | Muscular Diseases - pathology | Cell Adhesion Molecules - metabolism | ORAI1 Protein | Homozygote | Immunologic Deficiency Syndromes - genetics | Immunologic Deficiency Syndromes - metabolism | Ectodermal Dysplasia - genetics | Muscular Diseases - genetics | Calcium Channels - deficiency | Proteins | Cytomegalovirus | Cell growth | Plasmids | Lymphocytes | Cloning | Protein expression | Mutation | Gene expression | Patients | Age | Deoxyribonucleic acid--DNA | Index Medicus | Abridged Index Medicus
Journal Article
Subtotal amelia in a child with autosomal recessive hypohidrotic ectodermal dysplasia, 12/2005
We report an inbred Tunisian family, in which the proband manifested signs of hypohidrotic ectodermal dysplasia, subtotal amelia, scoliosis and left renal... 
Hypohidrotic ectodermal dysplasia (H E D), subtotal amelia, dysplastic ears
Journal
Prenatal Diagnosis, ISSN 0197-3851, 06/2017, Volume 37, Issue 6, pp. 628 - 630
Journal Article
The International journal of prosthodontics, ISSN 0893-2174, 2015, Volume 28, Issue 4, pp. 348 - 356
Purpose: The aim was to report on oral rehabilitation of a boy with X-linked hypohidrotic ectodermal dysplasia (XLHED) and anodontia of the mandible between... 
PLACEMENT | OROFACIAL DYSFUNCTION | ADOLESCENTS | DENTISTRY, ORAL SURGERY & MEDICINE | PROTOCOL | REHABILITATION | BONE | Child, Preschool | Infant | Dental Implants | Ectodermal Dysplasia 1, Anhidrotic - complications | Managed Care Programs - organization & administration | Humans | Dentistry
Journal Article