Utilidad del estudio molecular de CYP21A2 en el manejo prenatal de hiperplasia suprarrenal congénita: detección de dos nuevas mutaciones en Chile
Prenatal treatment of pregnancies at risk of congenital adrenal hyperplasia (CAH) may prevent ambiguous genitalia in female fetuses. We present the prenatal treatment performed in an extended family with two mutations. The proband, a boy with CAH-salt losing form, and his relatives were studied. The...
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| Auteurs principaux: | , , , , , |
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| Langue: | Spanish / Castilian |
| Publié: |
Sociedad Médica de Santiago
2007
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| Accès en ligne: | http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872007001100012 |
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