Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy

Restrictive cardiomyopathy (RCM) is a rare cause of heart muscle disease with the highest mortality rate among cardiomyopathy types. The etiology of RCM is poorly understood, although genetic causes have been implicated, and syndromic associations have been described. Here, we describe a patient wit...

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Detalles Bibliográficos
Autores principales: Yu, Hung-Chun, Coughlin, Curtis R., Geiger, Elizabeth A., Salvador, Blake J., Elias, Ellen R., Cavanaugh, Jean L., Chatfield, Kathryn C., Miyamoto, Shelley D., Shaikh, Tamim H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2016
Materias:
Research Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4853521/
https://www.ncbi.nlm.nih.gov/pubmed/27148590
http://dx.doi.org/10.1101/mcs.a000844

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4853521/
https://www.ncbi.nlm.nih.gov/pubmed/27148590
http://dx.doi.org/10.1101/mcs.a000844

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