Structural analysis of the impact of a novel androgen receptor gene mutation in two adult patients with mild androgen insensitivity syndrome-Reference-Cited by-同舟云学术

Structural analysis of the impact of a novel androgen receptor gene mutation in two adult patients with mild androgen insensitivity syndrome

Published:2020-10-27 Issue:1 Volume:53 Page:
ISSN:0303-4569
Container-title:Andrologia
language:en
Short-container-title:Andrologia

Author:

Hage Mirella¹^ORCID,Drui Delphine²,Francou Bruno³,Mercier Sandra⁴,Guiochon‐Mantel Anne³⁵,Belaisch‐Allart Joelle⁶,Péréon Yann⁷,Cazabat Laure¹⁸,De Mazancourt Philippe⁹,Raffin‐Sanson Marie Laure¹⁸

Affiliation:

1. Centre Hospitalier Universitaire Ambroise Paré Service d’Endocrinologie Diabétologie et Nutrition Assistance Publique‐Hôpitaux de Paris Boulogne Billancourt France

2. Centre Hospitalier Universitaire Nantes Service d’Endocrinologie L'institut du Thorax Nantes France

3. Centre Hospitalier Universitaire Bicêtre Service de Génétique Moléculaire Pharmacogénétique et Hormonologie Assistance Publique‐Hôpitaux de Paris Le Kremlin‐Bicêtre France

4. Centre Hospitalier Universitaire Nantes Service de Génétique Médicale L'institut du Thorax Nantes France

5. Inserm UMR 1185 Faculté de médecine Paris Saclay Université Paris‐Saclay le Kremlin‐Bicêtre France

6. Centre Hospitalier des Quatre Villes Service de Gynécologie‐Obstétrique et Médecine de la Reproduction Sèvres France

7. Centre Hospitalier Universitaire Nantes Centre de Référence Maladies Neuromusculaires Nantes‐Angers Hôtel‐Dieu Nantes France

8. EA4340 Université de Versailles Saint‐Quentin‐en‐Yvelines UFR des sciences de la santé Simone Veil Montigny‐le‐Bretonneux France

9. Centre Hospitalier Universitaire Ambroise Paré Laboratoire de Biochimie‐Génétique Moléculaire UMR1179 Boulogne Billancourt France

Publisher

Wiley

Subject

Urology,Endocrinology,General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/and.13865

Reference31 articles.

1. Androgen insensitivity as a cause of infertility in otherwise normal men;Aiman J.;New England Journal of Medicine,1979

2. Rethinking Genotype and Phenotype Correlations in Polyglutamine Expansion Disorders

3. Androgen insensitivity syndrome: a review

4. Phenotypic Variation in a Family with Partial Androgen Insensitivity Syndrome Explained by Differences in 5α Dihydrotestosterone Availability

5. Molecular Mechanisms of Androgen Action – A Historical Perspective

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