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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Veröffentlicht in:	Cold Spring Harbor molecular case studies 2016-05, Vol.2 (3), p.a000844-a000844
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Danio rerio Research Report
Online-Zugang:	Volltext
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