The novel p.Cys65Tyr mutation in NR5A1 gene in three 46,XY siblings with normal testosterone levels and their mother with primary ovarian insufficiency

BMC Medical Genetics

Volumn 15, Issue 1, 2014, Pages

  Fabbri, Helena C ^a   de Andrade, Juliana Gabriel R ^a   Soardi, Fernanda C ^a   de Calais, Flávia L ^a   Petroli, Reginaldo J ^a   Maciel Guerra, Andréa T ^a   Guerra Júnior, Gil ^a   de Mello, Maricilda P ^a  

^a UNIVERSITY OF CAMPINAS   (Brazil)

Author keywords

Disorders of sex development; NR5A1 mutation; Primary ovarian insufficiency

Indexed keywords

AMINO ACID; CELL NUCLEUS RECEPTOR; CORTICOTROPIN; HYDROCORTISONE; LIVER RECEPTOR HOMOLOG 1; NUCLEAR RECEPTOR NR5A1; STEROID 5ALPHA REDUCTASE 2; TESTOSTERONE; UNCLASSIFIED DRUG;

ADOLESCENT; ADRENAL FUNCTION; ADULT; AMBIGUOUS GENITALIA; ARTICLE; CASE REPORT; CHILD; COMPUTER MODEL; CORTICOTROPIN TEST; DISORDER OF SEX DEVELOPMENT; DNA BINDING; DNA SEQUENCE; FAMILIAL DISEASE; FEMALE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; GONAD DEVELOPMENT; HETEROZYGOTE; HUMAN; HYPOSPADIAS; KARYOTYPE 46,XY; LEYDIG CELL; MALE; MEDICAL HISTORY; ORCHIDOPEXY; PELVIS; PENIS; PHENOTYPE; PHYSICAL EXAMINATION; PREMATURE OVARIAN FAILURE; PROTEIN FUNCTION; SCHOOL CHILD; SEQUENCE ANALYSIS; SEX REASSIGNMENT; SIBLING; STEROIDOGENESIS; ULTRASOUND;

46, XY DISORDERS OF SEX DEVELOPMENT; ADOLESCENT; ADULT; AMINO ACID SEQUENCE; BASE SEQUENCE; CHILD; FEMALE; HUMANS; INFANT; MALE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MOTHERS; MUTATION; PRIMARY OVARIAN INSUFFICIENCY; PROTEIN STRUCTURE, SECONDARY; SIBLINGS; STEROIDOGENIC FACTOR 1; TESTOSTERONE;

EID: 84892421279     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-15-7     Document Type: Article

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