A novel stop-gain pathogenic variant in FLT4 and a nonsynonymous pathogenic variant in PTPN11 associated with congenital heart defects

BACKGROUND: Congenital heart defects (CHDs) are the most common congenital malformations, including structural malformations in the heart and great vessels. CHD complications such as low birth weight, prematurity, pregnancy termination, mortality, and morbidity depend on the type of defect. METHODS:...

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Detalles Bibliográficos
Autores principales: Tabib, Avisa, Talebi, Taravat, Ghasemi, Serwa, Pourirahim, Maryam, Naderi, Niloofar, Maleki, Majid, Kalayinia, Samira
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9737984/
https://www.ncbi.nlm.nih.gov/pubmed/36496429
http://dx.doi.org/10.1186/s40001-022-00920-8

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