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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Bibliografiset tiedot
Julkaisussa:Cold Spring Harb Mol Case Stud
Päätekijät: 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.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Cold Spring Harbor Laboratory Press 2016
Aiheet:
Research Report
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC4853521/
https://ncbi.nlm.nih.gov/pubmed/27148590
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a000844
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