TY - JOUR AU - Perez-Nanclares, Gustavo AU - Velayos, Teresa AU - Vela, Amaya AU - Muñoz-Torres, Manuel AU - Castaño, Luis PY - 2015 DO - 10.1371/journal.pone.0117691 UR - http://hdl.handle.net/10668/2568 T2 - PloS One AB - CONTEXT: Pseudohypoparathyroidism type 1b (PHP-Ib) is characterized by renal resistance to PTH (and, sometimes, a mild resistance to TSH) and absence of any features of Albright's hereditary osteodystrophy. Patients with PHP-Ib suffer of defects in... LA - en PB - Public Library of Science KW - Adulto KW - Femenino KW - Subunidades alfa de la Proteína de Unión al GTP Gs KW - Duplicación de gen KW - Masculino KW - Seudohipoparatiroidismo KW - Adolescente KW - Medical Subject Headings::Named Groups::Persons::Age Groups::Adult KW - Medical Subject Headings::Check Tags::Female KW - Medical Subject Headings::Chemicals and Drugs::Enzymes and Coenzymes::Enzymes::Hydrolases::Acid Anhydride Hydrolases::GTP Phosphohydrolases::GTP-Binding Proteins::Heterotrimeric GTP-Binding Proteins::GTP-Binding Protein alpha Subunits KW - Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Processes::Mutagenesis::Gene Duplication KW - Medical Subject Headings::Check Tags::Male KW - Medical Subject Headings::Diseases::Nutritional and Metabolic Diseases::Metabolic Diseases::Calcium Metabolism Disorders::Pseudohypoparathyroidism KW - Medical Subject Headings::Named Groups::Persons::Age Groups::Adolescent TI - Pseudohypoparathyroidism type Ib associated with novel duplications in the GNAS locus. TY - research article ER -