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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...

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Detalhes bibliográficos
Publicado no:Front Pediatr
Main Authors: Varenyiova, Zofia, Hrckova, Gabriela, Ilencikova, Denisa, Podracka, Ludmila
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2020
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7057230/
https://ncbi.nlm.nih.gov/pubmed/32175297
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fped.2020.00072
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