Cardiac valvular defect, developmental

Definition:

Cardiac valvular defect, developmental (CVDD) is non-syndromic severe congenital valve malformation. The identification of loss-of-function mutations in the PLD1 gene in two unrelated families with CVDD has been reported.

References:

[1]. Asaf Ta-Shma, et al. Congenital valvular defects associated with deleterious mutations in the PLD1 gene. J Med Genet. 2017 Apr;54(4):278-286. [Content Brief]

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