Genotype/phenotype correlations in 538 congenital adrenal hyperplasia patients from Germany and Austria: discordances in milder genotypes and in screened versus prescreening patients

Congenital adrenal hyperplasia (CAH) due to CYP21A2 gene mutations is associated with a variety of clinical phenotypes (salt wasting, SW; simple virilizing, SV; nonclassical, NC) depending on residual 21-hydroxylase activity. Phenotypes and genotypes correlate well in 80–90% of cases. We set out to...

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Detalles Bibliográficos
Autores principales: Riedl, Stefan, Röhl, Friedrich-Wilhelm, Bonfig, Walter, Brämswig, Jürgen, Richter-Unruh, Annette, Fricke-Otto, Susanne, Bettendorf, Markus, Riepe, Felix, Kriegshäuser, Gernot, Schönau, Eckhard, Even, Gertrud, Hauffa, Berthold, Dörr, Helmuth-Günther, Holl, Reinhard W, Mohnike, Klaus
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2019
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6365666/
https://www.ncbi.nlm.nih.gov/pubmed/30620712
http://dx.doi.org/10.1530/EC-18-0281

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6365666/
https://www.ncbi.nlm.nih.gov/pubmed/30620712
http://dx.doi.org/10.1530/EC-18-0281

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