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Hereditary hemorrhagic telangiectasis with juvenile polyposis syndrome: a case report

Hereditary hemorrhagic telangiectasis (HHT) and juvenile polyposis syndrome (JPS) are both relatively rare hereditary disorders. It has been reported that patients with SMAD4 mutations may suffer from both HHT and JPS, defined as JPS/HHT. To improve the understanding and diagnosis of these diseases,...

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Detalles Bibliográficos
Autores principales: Tao, Meng-Yu, Wang, Kai-Yi, Li, Xin, Yu, Chen, Wan, Qin-Si, Shu, Xu, Chen, You-Xiang, Liao, Wang-Di
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9793055/
https://www.ncbi.nlm.nih.gov/pubmed/36582665
http://dx.doi.org/10.1177/17562848221142913