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1.
Steroid 21-hydroxylase gene mutational spectrum in 454 Argentinean patients: genotype-phenotype correlation in a large cohort of patients with congenital adrenal hyperplasia.
Clin Endocrinol (Oxf)
; 75(4): 427-35, 2011 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-21609351
2.
Three new SF-1 (NR5A1) gene mutations in two unrelated families with multiple affected members: within-family variability in 46,XY subjects and low ovarian reserve in fertile 46,XX subjects.
Horm Res Paediatr
; 75(1): 70-7, 2011.
Artículo
en Inglés
| MEDLINE | ID: mdl-20861607
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