Esben Thyssen Vestergaard

Müllerian Duct Aplasia in a Girl With SMARCB1 ‐Related Coffin–Siris Syndrome: A Rare Co‐Occurring Anomaly

ABSTRACT Genetic etiologies of Müllerian aplasia (Mayer–Rokitansky–Küster–Hauser syndrome) remain poorly understood. Identification of patients with monogenic syndromes presenting with Müllerian aplasia may help improve our knowledge of the underlying biology. We investigated a 1...