Identification of four novel variant in the AMHR2 gene in six unrelated Turkish families
Author:
Publisher
Springer Science and Business Media LLC
Subject
Endocrinology,Endocrinology, Diabetes and Metabolism
Link
https://link.springer.com/content/pdf/10.1007/s40618-020-01437-9.pdf
Reference41 articles.
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2. Josso N, Belville C, di Clemente N, Picard JY (2005) AMH and AMH receptor defects in persistent Müllerian duct syndrome. Hum Reprod Update 11:351–356
3. Nilson O (1939) Hernia uteri inguinalis beins Manne. Acta Chir Scand 83:231–249
4. Knebelmann B, Boussin L, Guerrier D, Legeai L, Kahn A, Josso N, Picard JY (1991) Ant1-Mlillerian hormone Bruxelles: a nonsense mutation associated with the persistent Mullerian duct syndrome. Proc Natl Acad Sci U S A 88:3767–3771
5. Imbeaud S, Faure E, Lamarre I, Mattei MG, di Clemente N, Tizard R, Carre-Eusebe D, Belville C, Tragethon L, Tonkin C, Nelson J, McAuliffe M, Bidart JM, Lababidi A, Josso N, Cate RL, Picard JY (1995) Insensitivity to anti-Mullerian hormone due to a spontaneous mutation in the human anti-Mullerian hormone receptor. Nat Genet 11:382–388
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1. Two novel AMHR2 gene variants in monozygotic twins with persistent Müllerian duct syndrome: A case report and functional study;Molecular Genetics & Genomic Medicine;2022-06-02
2. Identification of AMH and AMHR2 Variants Led to the Diagnosis of Persistent Müllerian Duct Syndrome in Three Cases;Genes;2022-01-17
3. Surgical management and molecular diagnosis of persistent Müllerian duct syndrome in Chinese patients;Asian Journal of Andrology;2022
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