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...

Πλήρης περιγραφή

Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς: H. Ueda, T. Miyamoto, Y. Tsurusaki, G. Minase, N. Matsumoto, K. Sengoku
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: IMR Press 2020-08-01
Σειρά:Clinical and Experimental Obstetrics & Gynecology
Θέματα:
early diagnosis
hypertrophic cardiomyopathy
mutation
myh7
whole-exome sequencing
Διαθέσιμο Online:https://www.imrpress.com/journal/CEOG/47/4/10.31083/j.ceog.2020.04.3433
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