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Lucia Bartoloni on Muck Rack

Lucia Bartoloni

As seen in: Frontiers
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Case Report: Minipuberty hormonal profile in PPP1R12A -related persistent Müllerian duct syndrome

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By Federico Santoni, Jenny Meylan-Merlini, Oliver Vilchiz Sanchez, Oliver Roosevelt Sánchez, Michael Hauschild, Nelly Pitteloud, Kanetee Busiah, Marie Voide, Lucia Bartoloni
| Frontiers
Abstract Persistent Müllerian duct syndrome (PMDS) is a rare difference/disorder of sex development and maturation characterized by the retention of Müllerian structures during fetal development in individuals with a 46,XY karyotype. It is typically due to mutations in anti-Müllerian hormone (AMH) or its receptor, anti-Müllerian hormone receptor type 2 (AMHR2).
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