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Cecilia Fernández

Instituto de Biología y Medicina Experimental

11

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CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants

2018 Human Mutation
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Structure-based activity prediction of CYP21A2 stability variants: A survey of available gene variations

2016 Scientific Reports
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Misregulation effect of a novel allelic variant in the Z promoter region found in cis with the CYP21A2 p.P482S mutation: implications for 21-hydroxylase deficiency

2015 Endocrine
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Talla final en varones sintomáticos con hiperplasia suprarrenal no clásica tratados con glucocorticoides: Casos clínicos

2013 Archivos Argentinos De Pediatria
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Isolated p.H62L Mutation in the CYP21A2 Gene in a Simple Virilizing 21-Hydroxylase Deficient Patient

2013 Case reports in genetics
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Caracterización molecular del módulo rccx en pacientes con deficiencia de 21-hidroxilasa de la población argentina

2012
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CONGENITAL ADRENAL HYPERPLASIA CLINICAL CHARACTERISTICS AND GENOTYPE IN NEWBORN, CHILDHOOD AND ADOLESCENCE

2007 Medicina-buenos Aires
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Citations (11)