A novel BMPR2 mutation in a patient with heritable pulmonary arterial hypertension and suspected hereditary hemorrhagic telangiectasia: A case report

RATIONALE: BMPR2 mutation is the most common cause of heritable pulmonary arterial hypertension (HPAH), but rare in hereditary hemorrhagic telangiectasia (HHT). ACVRL1, ENG and SMAD4 are the most common gene mutations reported in HPAH with HHT. PATIENT CONCERNS: We report a 11-year-old boy with a de...

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Detalles Bibliográficos
Autores principales: Ye, Fanhao, Jiang, Wenbing, Lin, Wei, Wang, Yi, Chen, Hao, Zou, He, Huang, Shiwei, Zhu, Ning, Han, Sisi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2020
Materias:
3400
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7402743/
https://www.ncbi.nlm.nih.gov/pubmed/32756122
http://dx.doi.org/10.1097/MD.0000000000021342

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