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ey0016.6-2 | New Functions of (Old) Genes | ESPEYB16

6.2. Epigenetic repression of androgen receptor transcription in mutation-negative androgen insensitivity syndrome (AIS type II)

NC Hornig , P Rodens , H Dorr , NC Hubner , AE Kulle , HU Schweikert , M Welzel , S Bens , O Hiort , R Werner , S Gonzalves , AK Eckstein , M Cools , A Verrijn-Stuart , HG Stunnenberg , R Siebert , O Ammerpohl , PM Holterhus

J Clin Endocrinol Metab. 2018 Dec 1;103(12):46174627.doi: 10.1210/jc.2018-00052. PMID: 30124873This study shows for the first time that epigenetic changes in the androgen receptor gene (AR) proximal promoter region may underlie a clinical phenotype of Androgen Insensitivity Syndrome (AIS) in individuals in whom no DNA sequence mutation in AR or ...

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ESPE Yearbook of Paediatric Endocrinology

6.2. Epigenetic repression of androgen receptor transcription in mutation-negative androgen insensitivity syndrome (AIS type II)

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