Identification of a new mutation in the SRY gene in a 46,XY woman with Swyer syndrome

Fertility and Sterility

Volumn 91, Issue 3, 2009, Pages 932.e7-932.e11

  Marchina, Eleonora ^a   Gambera, Alessandro ^b   Spinelli, Elide ^a   Clerici, Paola ^a   Scagliola, Pasquale ^b   Sartori, Enrico ^b   Barlati, Sergio ^a  

^a UNIVERSITY OF BRESCIA   (Italy)

^b SPEDALI CIVILI   (Italy)

Author keywords

genetic counseling; gonadal dysgenesis; gonadal tumors; SRY mutations; Swyer syndrome

Indexed keywords

ANDROSTANEDIOL; FOLLITROPIN; GLUCURONIDE; GLYCOPROTEIN E2; HYDROXYPROGESTERONE; LEPTIN; LUTEINIZING HORMONE; MEDROXYPROGESTERONE ACETATE; NUCLEOTIDE; PROLACTIN;

ADULT; AMENORRHEA; ARTICLE; CASE REPORT; CLINICAL FEATURE; CODON; ECHOGRAPHY; FEMALE; FOLLITROPIN BLOOD LEVEL; FOLLOW UP; FRAMESHIFT MUTATION; GENE EXPRESSION; GENE IDENTIFICATION; GENE INSERTION; GENE MUTATION; GENETIC COUNSELING; GONADAL DYSGENESIS; HUMAN; KARYOTYPE 46,XY; LABORATORY; LUTEINIZING HORMONE BLOOD LEVEL; PRIORITY JOURNAL; PROLACTIN BLOOD LEVEL; PROTEIN BLOOD LEVEL; SEX TRANSFORMATION; SRY GENE; UNIVERSITY HOSPITAL;

EID: 61349194425     PISSN: 00150282     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.fertnstert.2008.07.1722     Document Type: Article

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