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American journal of medical genetics. Part C, Seminars in medical genetics, ISSN 1552-4868, 06/2017, Volume 175, Issue 2, pp. 253 - 259
Journal Article
PloS one, ISSN 1932-6203, 2011, Volume 6, Issue 3, pp. e17793 - e17793
Journal Article
PloS one, ISSN 1932-6203, 05/2017, Volume 12, Issue 5, pp. e0176720 - e0176720
Mutations in NR5A1 have been reported as a frequent cause of 46, XY disorders of sex development (DSD) associated to a broad phenotypic spectrum ranging from... 
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Gonadal Dysgenesis - physiopathology | Follow-Up Studies | Gonadal Dysgenesis - genetics | Humans | Steroidogenic Factor 1 - genetics | Male | T-Box Domain Proteins - genetics | Phenotype | Gonadal Dysgenesis - therapy | Adolescent | Female | HeLa Cells | Mutation | Steroidogenic Factor 1 - metabolism | Child | Gonadal disorders | Development and progression | Genetic aspects | Chromosome abnormalities | Gene mutations | Health aspects | Neonates | Disorders | Infants | Gender | Males | Genetic screening | Case studies | Genotype & phenotype | Urinary bladder | Sex determination | Fertility | Surgery | Amenorrhea | Tubes | Genetics | Diagnosis | Deoxyribonucleic acid--DNA | Binding | Spleen | Evaluation | Genitalia | Abnormalities | Phenotypic variations | Vagina | Laparoscopy | Ovaries | Gene expression | Discrimination | Infertility | Mice | Colliculus | Animal models | Transcription | Variability | Genes | Diamonds | Bladder | Biosynthesis | Uterus | Modulation | Division | Mathematical models | Children | Adolescents | Urogenital system | Age | Puberty | Reproductive systems | Genetic disorders | Nucleotide sequence | Diabetes mellitus | Pituitary (anterior) | Histology | Childbirth & labor | Medicine | Testosterone | Adrenocorticotropic hormone | Reproductive system | Differentiation | Gonads | Tumors | Index Medicus | Deoxyribonucleic acid | DNA
Journal Article
Journal Article
Proceedings of the National Academy of Sciences - PNAS, ISSN 1091-6490, 07/2004, Volume 101, Issue 32, pp. 11689 - 11694
Journal Article