Prenatal diagnosis of recurrent hypoplastic left heart syndrome associated with MYH6 variants: a case report

BACKGROUND: Hypoplastic left heart syndrome (HLHS) is a rare but genetically complex and clinically and anatomically severe form of congenital heart disease (CHD). CASE PRESENTATION: Here, we report on the use of rapid prenatal whole-exome sequencing for the prenatal diagnosis of a severe case of ne...

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Detalles Bibliográficos
Autores principales: Najib, B., Quibel, T., Tessier, A., Mortreux, J., Bouvagnet, P., Cohen, C., Vialard, F., Dard, R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9993643/
https://www.ncbi.nlm.nih.gov/pubmed/36890431
http://dx.doi.org/10.1186/s12872-023-03169-z

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