Myhre Syndrome Associated With Dunbar Syndrome and Urinary Tract Abnormalities: A Case Report

• Главные авторы: Zofia Varenyiova (Автор), Gabriela Hrckova (Автор), Denisa Ilencikova (Автор), Ludmila Podracka (Автор)
• Формат: ‌
• Опубликовано: Frontiers Media S.A., 2020-02-01T00:00:00Z.
• Предметы: article
• Online-ссылка: Connect to this object online.

Myhre syndrome is a rare condition caused by a mutation in the SMAD4 gene, which leads to a defective TGF-β/BMP signaling, resulting in the proliferation of abnormal fibrous tissues. Clinically, patients with Myhre syndrome manifest with defects of connective tissue (skin, muscles, joints), and card...