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Article(3)
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European Journal of Endocrinology(1)
Gynecological Endocrinology(1)
Journal of Clinical Endocrinology and Metabolism(1)
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scopus(3)
A novel point mutation in P450c17 (CYP17) causing combined 17α-hydroxylase/17,20-lyase deficiency
ArticleAbstract: Context: Combined 17α-hydroxylase/17,20-lyase deficiency is a rare cause of congenital adrenal hyperPalabras claves:Autores:Achermann J.C., Ahmad T., Brooke A.M., Gore M.E., Lin L., Monson J.P., Papari-Zareei M., Richard J. Auchus, Rumsby G., Shepherd J.H., Taylor N.F.Fuentes:scopusPhenotypic variation in a Chinese family with 46,XY and 46,XX 17α-hydroxylase deficiency
ArticleAbstract: Background: 17α-hydroxylase deficiency is a rare autosomal recessive disorder characterized by sexuaPalabras claves:17α-hydroxylase deficiency, CYP17A1 gene, Cytochrome P450c17, Mutational analysis, phenotypic variationAutores:Bee Y.M., Manju C., Papari-Zareei M., Richard J. AuchusFuentes:scopusPuberty in a case with novel 17-hydroxylase mutation and the putative role of estrogen in development of pubic hair
ArticleAbstract: Objective: 17-Hydroxylase/17,20-lyase deficiency (17OHD) results from mutations in the CYP17A1 gene,Palabras claves:Autores:Akcay T., Bereket A., Guran T., Papari-Zareei M., Richard J. Auchus, Turan S.Fuentes:scopus