TY  - JOUR
AU  - Audi, L
AU  - Fernández-Cancio, M
AU  - Carrascosa, A
AU  - Andaluz, P
AU  - Torán, N
AU  - Piró, C
AU  - Vilaró, E
AU  - Vicens-Calvet, E
AU  - Gussinyé, M
AU  - Albisu, M A
AU  - Yeste, D
AU  - Clemente, M
AU  - Hernández de la Calle, I
AU  - Campo, M Del
AU  - Vendrell, T
AU  - Blanco, A
AU  - Martínez-Mora, J
AU  - Granada, M L
AU  - Salinas, I
AU  - Forn, J
AU  - Calaf, J
AU  - Angerri, O
AU  - Martínez-Sopena, M J
AU  - Valle, J Del
AU  - García, E
AU  - Gracia-Bouthelier, R
AU  - Lapunzina, P
AU  - Mayayo, E
AU  - Labarta, J I
AU  - Lledó, G
AU  - Sánchez Del Pozo, J
AU  - Arroyo, J
AU  - Pérez-Aytes, A
AU  - Beneyto, M
AU  - Segura, A
AU  - Borrás, V
AU  - Gabau, E
AU  - Caimarí, M
AU  - Rodríguez, A
AU  - Martínez-Aedo, M J
AU  - Carrera, M
AU  - Castaño, L
AU  - Andrade, M
AU  - Bermúdez de la Vega, J A
PY  - 2010
DO  - 10.1210/jc.2009-2146
SN  - 0021-972X
UR  - http://hdl.handle.net/10668/1323
T2  - The Journal of clinical endocrinology and metabolism
AB  - BACKGROUNDAndrogen receptor (AR) gene mutations are the most frequent cause of 46,XY disorders of sex development (DSD) and are associated with a variety of phenotypes, ranging from phenotypic women [complete androgen insensitivity syndrome (CAIS)] to...
LA  - en
PB  - Endocrine Society
KW  - 3-oxo-5-alfa-esteroide 4-deshidrogenasa
KW  - Exonas
KW  - Disgenesia gonadal 46XY
KW  - Heterocigoto
KW  - Intrones
KW  - Mutación
KW  - Receptores de andrógenos
KW  - Reacción en cadena de la polimerasa por transcriptasa inversa
KW  - Medical Subject Headings::Named Groups::Persons::Age Groups::Adolescent
KW  - Medical Subject Headings::Named Groups::Persons::Age Groups::Child
KW  - Medical Subject Headings::Named Groups::Persons::Age Groups::Child::Child, Preschool
KW  - Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genes::Gene Components::Exons
KW  - Medical Subject Headings::Check Tags::Female
KW  - Medical Subject Headings::Anatomy::Cells::Connective Tissue Cells::Fibroblasts
KW  - Medical Subject Headings::Diseases::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Congenital Abnormalities::Urogenital Abnormalities::Disorders of Sex Development::46, XY Disorders of Sex Development::Gonadal Dysgenesis, 46,XY
KW  - Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genotype::Heterozygote
KW  - Medical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans
KW  - Medical Subject Headings::Named Groups::Persons::Age Groups::Infant
KW  - Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genes::Gene Components::Introns
KW  - Medical Subject Headings::Check Tags::Male
KW  - Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Variation::Mutation
KW  - Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Phenotype
KW  - Medical Subject Headings::Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Transcription Factors::Receptors, Cytoplasmic and Nuclear::Receptors, Steroid::Receptors, Androgen
KW  - Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Genetic Techniques::Nucleic Acid Amplification Techniques::Polymerase Chain Reaction::Reverse Transcriptase Polymerase Chain Reaction
KW  - Medical Subject Headings::Psychiatry and Psychology::Behavior and Behavior Mechanisms::Behavior::Sexual Behavior
KW  - Medical Subject Headings::Anatomy::Urogenital System::Genitalia::Gonads::Testis
KW  - Medical Subject Headings::Chemicals and Drugs::Enzymes and Coenzymes::Enzymes::Oxidoreductases::Oxidoreductases Acting on CH-CH Group Donors::3-Oxo-5-alpha-Steroid 4-Dehydrogenase
TI  - Novel (60%) and recurrent (40%) androgen receptor gene mutations in a series of 59 patients with a 46,XY disorder of sex development.
TY  - research article
ER  -