Molecular characterization of 6 unrelated Italian patients with 5α-reductase type 2 deficiency

Journal of Andrology

Volumn 29, Issue 1, 2008, Pages 20-28

  Baldinotti, Fulvia ^a,f   Majore, S ^b   Fogli, A ^a   Marrocco, G ^b   Ghirri, P ^a   Vuerich, M ^a   Tumini, S ^c   Boscherini, B ^d   Vetri, M ^e   Scommegna, S ^b   Rinaldi, R ^b   Simi, P ^a   Grammatico, P ^b  

^a UNIVERSITY OF PISA   (Italy)

^b SAPIENZA UNIVERSITY OF ROME   (Italy)

^c UNIVERSITY OF CHIETI   (Italy)

^d TOR VERGATA UNIVERSITY HOSPITAL   (Italy)

^e GARIBALDI HOSPITAL   (Italy)

^f SANTA CHIARA HOSPITAL   (Italy)

Author keywords

5 reductase deficiency; Hypospadias; SRD5A2 gene

Indexed keywords

ANDROSTANOLONE; STEROID 5ALPHA REDUCTASE; TESTOSTERONE ENANTATE;

ADOLESCENT; ADULT; ALLELE; ARTICLE; CLINICAL ARTICLE; ENZYME DEFICIENCY; EXON; FEMALE; FETUS DEVELOPMENT; GENDER DYSPHORIA; GENETIC POLYMORPHISM; GENITAL SYSTEM; HETEROZYGOTE DETECTION; HOMOZYGOSITY; HUMAN; HYPOSPADIAS; KARYOTYPE 46,XY; MALE; MICROPENIS; MISSENSE MUTATION; MOLECULAR BIOLOGY; NEWBORN; NONSENSE MUTATION; POINT MUTATION; PRIORITY JOURNAL; PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIA; PUBERTY; SCHOOL CHILD; SEX DIFFERENCE; VIRILIZATION;

ADOLESCENT; ADULT; CHILD; CODON, NONSENSE; DIHYDROTESTOSTERONE; FEMALE; HETEROZYGOTE; HUMANS; HYPOSPADIAS; INFANT, NEWBORN; ITALY; MALE; MUTATION, MISSENSE; POLYMORPHISM, GENETIC; PSEUDOHERMAPHRODITISM; SEX DIFFERENTIATION; TESTOSTERONE 5-ALPHA-REDUCTASE;

EID: 38049098261     PISSN: 01963635     EISSN: None     Source Type: Journal    
DOI: 10.2164/jandrol.107.002592     Document Type: Article

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