Rapid diagnostic testing of a neonate in a family with hypertrophic cardiomyopathy

Familial hypertrophic cardiomyopathy (HCM) is a common but severe genetic disease. A pregnant woman with familial HCM was referred to our hospital as both the couple and their families were concerned that the baby would later develop HCM. Therefore, we determined the risk of HCM in the neonate. Usin...

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Hauptverfasser: H. Ueda, T. Miyamoto, Y. Tsurusaki, G. Minase, N. Matsumoto, K. Sengoku
Format: Artigo
Sprache:Inglês
Veröffentlicht: IMR Press 2020-08-01
Schriftenreihe:Clinical and Experimental Obstetrics & Gynecology
Schlagworte:
early diagnosis
hypertrophic cardiomyopathy
mutation
myh7
whole-exome sequencing
Online Zugang:https://www.imrpress.com/journal/CEOG/47/4/10.31083/j.ceog.2020.04.3433
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