Case studies of two related Chinese patients with Carney complex presenting with extensive cardiac myxomas and PRKAR1A gene mutation of c.491_492delTG

Carney complex is an autosomal dominant disease that is clinically characterized by cardiac myxomas, spotty skin pigmentation, and endocrine overactivity. Carney complex is most commonly caused by mutations in the PRKAR1A gene on chromosome 17q22-24. Currently, there are at least 117 pathogenic muta...

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Detalles Bibliográficos
Autores principales: Guo, Hongwei, Xu, Jianping, Xiong, Hui, Hu, Shengshou
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4349715/
https://www.ncbi.nlm.nih.gov/pubmed/25890363
http://dx.doi.org/10.1186/s12957-015-0470-4

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