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Clinics in perinatology, 06/2015, Volume 42, Issue 2, p. 301
The skeletal dysplasias are a group of more than 450 heritable disorders of bone. They frequently present in the newborn period with disproportion,... 
Global Health | Humans | Bone Diseases, Developmental - epidemiology | Bone Diseases, Developmental - genetics | Bone Diseases, Developmental - diagnosis | Genetic Testing - methods | Infant, Newborn | Morbidity
Journal Article
Journal Article
Journal of Bone and Mineral Research, ISSN 0884-0431, 07/2012, Volume 27, Issue 7, pp. 1462 - 1470
Journal Article
Annals of Endocrinology (Annales D'Endocrinologie, English Edition), ISSN 0003-4266, 2017, Volume 78, Issue 2, pp. 114 - 122
Journal Article
Clinical Genetics, ISSN 0009-9163, 07/2017, Volume 92, Issue 1, pp. 91 - 98
Journal Article
Ultrasound in Obstetrics and Gynecology, ISSN 0960-7692, 08/2009, Volume 34, Issue 2, pp. 160 - 170
Journal Article
American Journal of Roentgenology, ISSN 0361-803X, 05/2018, Volume 210, Issue 5, pp. 1022 - 1033
Journal Article
Paediatrics and Child Health, ISSN 1751-7222, 02/2018, Volume 28, Issue 2, pp. 84 - 92
Skeletal dysplasias are a large group of rare diseases, with over 400 distinct entities recognised. Diagnosis is challenging, largely reflecting the rareness... 
pseudoachondroplasia | next generation sequencing | radiology | achondroplasia | hypophosphatasia | osteochondrodysplasia | skeletal dysplasia | spondyloepiphyseal dysplasia congenita
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
Journal Article
Journal of Ultrasound in Medicine, ISSN 0278-4297, 06/2014, Volume 33, Issue 6, pp. 1085 - 1090
Objectives-To assess the utility of biometric indices and amniotic fluid volume in identifying fetuses with lethal skeletal dysplasia.Methods-A review of... 
pregnancy outcomes | obstetric ultrasound | skeletal dysplasia | sonography
Journal Article
Journal Article
Displasia campomélica. Descripción de un caso (Case report: Campomelic dysplasia), 12/2005
Campomelic dysplasia is an alteration of bone development which is manifested as an autosomal dominant disease. It is characterized by femoral and tibial... 
Sex reversal | Camptomelic dysplasia | Displasia camptomélica | Displasia esquelética | Campomelic dysplasia | Reversión sexual | Skeletal dysplasia | ECLAMC | Congenital malformations | Malformaciones congénitas | Displasia campomélica
Journal