Mutational analysis of steroidogenic factor 1 (NR5a1) in 24 boys with bilateral anorchia: A French collaborative study

Human Reproduction

Volumn 22, Issue 12, 2007, Pages 3255-3261

  Philibert, Pascal ^a   Zenaty, Delphine ^b   Lin, Lin ^c   Soskin, Sylvie ^d   Audran, Françoise ^a   Léger, Juliane ^b   Achermann, John C ^c   Sultan, Charles ^a,e  

^a LAPEYRONIE HOSPITAL   (France)

^b HÔPITAL ROBERT DEBRÉ   (France)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d UNIVERSITY HOSPITAL OF STRASBOURG   (France)

^e HÔPITAL ARNAUD DE VILLENEUVE   (France)

Author keywords

Disorders of sexual development; Gonadal dysgenesis; SF1; Testicular regression; Vanishing testis syndrome

Indexed keywords

STEROIDOGENIC FACTOR 1; STEROIDOGENIC FACTOR 1, HUMAN; UNCLASSIFIED DRUG;

ANORCHIA; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; GENE EXPRESSION; GENE LOCATION; GENE MUTATION; GENE TARGETING; GENETIC ANALYSIS; HUMAN; MALE; MICROPENIS; PHENOTYPE; BINDING SITE; CASE REPORT; CHEMISTRY; CLINICAL TRIAL; COHORT ANALYSIS; CONGENITAL MALFORMATION; COOPERATION; EUNUCHOIDISM; FRANCE; GENETICS; GONADAL DYSGENESIS; HETEROZYGOTE; INFANT; MISSENSE MUTATION; MULTICENTER STUDY; NEWBORN; NUCLEOTIDE SEQUENCE; PATHOLOGY; PENIS; PRESCHOOL CHILD; PROTEIN TERTIARY STRUCTURE; TESTIS;

BINDING SITES; CHILD, PRESCHOOL; COHORT STUDIES; COOPERATIVE BEHAVIOR; DNA MUTATIONAL ANALYSIS; EUNUCHISM; FRANCE; GONADAL DYSGENESIS, 46,XY; HETEROZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUTATION, MISSENSE; PENIS; PROTEIN STRUCTURE, TERTIARY; STEROIDOGENIC FACTOR 1; TESTIS;

EID: 40449102287     PISSN: 02681161     EISSN: 14602350     Source Type: Journal    
DOI: 10.1093/humrep/dem278     Document Type: Article

References (43)