Mayer-Rokitansky-Küster-Hauser syndrome associated with 7q11.23 microduplication: A case report

Mayer-Rokitansky-Küster-Hauser syndrome associated with 7q11.23 microduplication: A case report

Introduction: Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) is characterized by the congenital absence of the uterus and vagina in females with 46, XX karyotype. The genetic etiology remains poorly understood. Case presentation: We described a 29-year-old female patient with a main complaint of pr...

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Main Authors: Gabriela Corassa Rodrigues da Cunha, Vanessa Sodré de Souza, Marcus Von Zuben, Mara Santos Córdoba, Mayra Veloso Ayrimoraes Soares, Raphael Severino Bonadio, Daniela Mara de Oliveira, Silviene Fabiana de Oliveira, Juliana Forte de Mazzeu Araújo, Aline Pic-Taylor
Format: Article
Language:English
Published: KeAi Communications Co., Ltd. 2025-06-01
Series:Global Medical Genetics
Subjects:
MRKHS
Müllerian aplasia
Mayer-Rokitansky-Küster-Hauser Syndrome
7q11.23 microduplication
Online Access:http://www.sciencedirect.com/science/article/pii/S2699940425000402
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