A 27 base-pair deletion of the anti-mullerian type II receptor gene is the most common cause of the persistent mullerian duct syndrome

Autor: Liza Messika-Zeitoun, Jean-Yves Picard, Sandrine Imbeaud, Nathalie di Clemente, Nathalie Josso, Corinne Belville, Rodolfo Rey

Publikováno v: Human Molecular Genetics
Human Molecular Genetics, 1996, pp.1269-77
Human Molecular Genetics, Oxford University Press (OUP), 1996, pp.1269-77

International audience; The persistent müllerian duct syndrome, characterized by the lack of regression of müllerian derivatives, uterus and tubes in otherwise normally masculinized males, is a genetically transmitted disorder implicating either an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e08cb845d29fecfa2093c01bf646e767
https://doi.org/10.1093/hmg/5.9.1269

Autosomal Recessive Segregation of a Truncating Mutation of Anti-Müllerian Type II Receptor in a Family Affected by the Persistent Müllerian Duct Syndrome Contrasts with Its Dominant Negative Activity in Vitro

Autor: Laurence Lins, Ieuan A. Hughes, Corinne Belville, Lucile Gouédard, Liza Messika-Zeitoun, Sandrine Imbeaud, Nathalie di Clemente, Jean-Yves Picard, Nathalie Josso, Martin Dutertre

Publikováno v: Journal of Clinical Endocrinology and Metabolism
Journal of Clinical Endocrinology and Metabolism, 2001, 86 (9), pp.4390-4397. ⟨10.1210/jcem.86.9.7839⟩
Journal of Clinical Endocrinology and Metabolism, Endocrine Society, 2001, 86 (9), pp.4390-4397. ⟨10.1210/jcem.86.9.7839⟩

International audience; Anti-Müllerian hormone belongs to the TGFbeta family whose members exert their effects by signaling through two related serine/threonine kinase receptors. Mutations of the anti-Müllerian hormone type II receptor occur natura

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2fdb97f7b601cf57ee3f177b1496403
https://hal.science/hal-01930639