Triple repeated fetal congenital heart disease linked to PLD1 mutation: a case report

Triple repeated fetal congenital heart disease linked to PLD1 mutation: a case report

Abstract Background Congenital heart disease occurs in approximately 1 in 100 cases. Although sibling occurrence is high (3–9%), the causative genes for this disease are still being elucidated. PLD1 (Phospholipase D1) is a recently discovered gene; however, few case reports have been published on it...

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Bibliographic Details
Main Authors: Yuki Masuda, Yoko Nagayasu, Hikaru Murakami, Ruri Nishie, Natsuko Morita, Sosuke Hashida, Atsushi Daimon, Misa Nunode, Hiroshi Maruoka, Masae Yoo, Takumi Sano, Yutaka Odanaka, Satoe Fujiwara, Daisuke Fujita, Nobuhiko Okamoto, Masahide Ohmichi
Format: Article
Language:English
Published: BMC 2023-09-01
Series:Journal of Medical Case Reports
Subjects:
Congenital heart disease
Cardiology
Genetic
Genetic disease
PLD1
Online Access:https://doi.org/10.1186/s13256-023-04149-9

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