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...

Celý popis

Uloženo v:
Podrobná bibliografie
Hlavní autoři: H. Ueda, T. Miyamoto, Y. Tsurusaki, G. Minase, N. Matsumoto, K. Sengoku
Médium: Artigo
Jazyk:Inglês
Vydáno: IMR Press 2020-08-01
Edice:Clinical and Experimental Obstetrics & Gynecology
Témata:
early diagnosis
hypertrophic cardiomyopathy
mutation
myh7
whole-exome sequencing
On-line přístup:https://www.imrpress.com/journal/CEOG/47/4/10.31083/j.ceog.2020.04.3433
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky