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Myhre Syndrome Associated With Dunbar Syndrome and Urinary Tract Abnormalities: A Case Report
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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7057230/ https://www.ncbi.nlm.nih.gov/pubmed/32175297 http://dx.doi.org/10.3389/fped.2020.00072 |