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

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. In thi...

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Detalles Bibliográficos
Autores principales: Masuda, Yuki, Nagayasu, Yoko, Murakami, Hikaru, Nishie, Ruri, Morita, Natsuko, Hashida, Sosuke, Daimon, Atsushi, Nunode, Misa, Maruoka, Hiroshi, Yoo, Masae, Sano, Takumi, Odanaka, Yutaka, Fujiwara, Satoe, Fujita, Daisuke, Okamoto, Nobuhiko, Ohmichi, Masahide
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10540367/
https://www.ncbi.nlm.nih.gov/pubmed/37770978
http://dx.doi.org/10.1186/s13256-023-04149-9