Whole-exome sequencing identifies a de novo PDE3A variant causing autosomal dominant hypertension with brachydactyly type E syndrome: a case report

BACKGROUND: Autosomal dominant hypertension with brachydactyly type E syndrome caused by pathogenic variants in the PDE3A gene was first reported in 2015. To date, there are only a few reports of this kind of syndrome. Other patients still lack a genetic diagnosis. CASE PRESENTATION: Whole-exome seq...

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Detalles Bibliográficos
Autores principales: Li, Xianqing, Li, Zongzhe, Chen, Peng, Wang, Yan, Wang, Dao Wen, Wang, Dao Wu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7336660/
https://www.ncbi.nlm.nih.gov/pubmed/32631253
http://dx.doi.org/10.1186/s12881-020-01077-z

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