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Epigenetic Repression of Androgen Receptor Transcription in Mutation-Negative Androgen Insensitivity Syndrome (AIS Type II).
Hornig NC, Rodens P, Dörr H, Hubner NC, Kulle AE, Schweikert HU, Welzel M, Bens S, Hiort O, Werner R, Gonzalves S, Eckstein AK, Cools M, Verrijn-Stuart A, Stunnenberg HG, Siebert R, Ammerpohl O, Holterhus PM. Hornig NC, et al. Among authors: welzel m. J Clin Endocrinol Metab. 2018 Dec 1;103(12):4617-4627. doi: 10.1210/jc.2018-00052. J Clin Endocrinol Metab. 2018. PMID: 30124873
The novel mutation p.Trp147Arg of the steroidogenic acute regulatory protein causes classic lipoid congenital adrenal hyperplasia with adrenal insufficiency and 46,XY disorder of sex development.
Yüksel B, Kulle AE, Gürbüz F, Welzel M, Kotan D, Mengen E, Holterhus PM, Topaloğlu AK, Grötzinger J, Riepe FG. Yüksel B, et al. Among authors: welzel m. Horm Res Paediatr. 2013;80(3):163-9. doi: 10.1159/000354086. Epub 2013 Aug 1. Horm Res Paediatr. 2013. PMID: 23920000 Clinical Trial.
69 results