Ten novel mutations in the NR5A1 gene cause disordered sex development in 46,XY and ovarian insufficiency in 46,XX individuals

Journal of Clinical Endocrinology and Metabolism

Volumn 97, Issue 7, 2012, Pages

  Camats, N ^a,b   Pandey, A V ^b   Fernandez Cancio M ^a   Andaluz, P ^a   Janner, M ^b   Toran N ^a   Moreno, F ^c   Bereket, A ^d   Akcay, T ^e   Garcia Garcia E ^f   Munoz M T ^g   Gracia, R ^h   Nistal, M ^h   Castano L ⁱ   Mullis, P E ^b   Carrascosa, A ^a   Audí, Laura ^a   Flück, Christa E ^b  

^a HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

^b UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^c HOSPITAL UNIVERSITARIO LA FE   (Spain)

^d MARMARA UNIVERSITY   (Turkey)

^e SISLI ETFAL TRAINING AND RESEARCH HOSPITAL   (Turkey)

^f HOSPITAL UNIVERSITARIO VIRGEN DEL ROCÍO   (Spain)

^g HOSPITAL INFANTIL UNIVERSITARIO NIÑO JESÚS   (Spain)

^h HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

ⁱ UNIVERSITY OF THE BASQUE COUNTRY UPV EHU   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

STEROIDOGENIC FACTOR 1;

ADOLESCENT; ADULT; ARTICLE; CELL VACUOLE; CHILD; CONGENITAL ADRENAL HYPERPLASIA; CONTROLLED STUDY; DNA BINDING; FEMALE; FRAMESHIFT MUTATION; GENE; GENE DUPLICATION; GENE LOCATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC TRAIT; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOSITY; HETEROZYGOTE DETECTION; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; KARYOTYPE 46,XX; KARYOTYPE 46,XY; KARYOTYPE 47,XYY; LEYDIG CELL; LIPID STORAGE; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NONSENSE MUTATION; NR5A1 GENE; OVARY INSUFFICIENCY; PHENOTYPE; PRIORITY JOURNAL; SEX DIFFERENTIATION DISORDER; SPAIN; SWITZERLAND; TRANSACTIVATION; TURKEY (REPUBLIC);

46, XX DISORDERS OF SEX DEVELOPMENT; 46, XY DISORDERS OF SEX DEVELOPMENT; ADOLESCENT; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; PHENOTYPE; POINT MUTATION; PRIMARY OVARIAN INSUFFICIENCY; STEROIDOGENIC FACTOR 1; YOUNG ADULT;

EID: 84863571720     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2011-3169     Document Type: Article

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