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Genotype/phenotype correlations in 538 congenital adrenal hyperplasia patients from Germany and Austria: discordances in milder genotypes and in screened versus prescreening patients.
Riedl S, Röhl FW, Bonfig W, Brämswig J, Richter-Unruh A, Fricke-Otto S, Bettendorf M, Riepe F, Kriegshäuser G, Schönau E, Even G, Hauffa B, Dörr HG, Holl RW, Mohnike K; AQUAPE CAH Study Group. Riedl S, et al. Endocr Connect. 2019 Feb 1;8(2):86-94. doi: 10.1530/EC-18-0281. Endocr Connect. 2019. PMID: 30620712 Free PMC article.
No correlation between androgen receptor CAG and GGN repeat length and the degree of genital virilization in females with 21-hydroxylase deficiency.
Welzel M, Schwarz HP, Hedderich J, Dörr HG, Binder G, Brämswig JH, Krude H, Richter-Unruh A, Niedziela M, Gromoll J, Krone N, Riepe FG, Holterhus PM. Welzel M, et al. J Clin Endocrinol Metab. 2010 May;95(5):2443-50. doi: 10.1210/jc.2009-1338. Epub 2010 Mar 16. J Clin Endocrinol Metab. 2010. PMID: 20233785
66 results