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Bifid cardiac apex and spongiform cardiomyopathy in fetus with small microdeletion 16p12.2 of paternal origin. Critical points in family communication on 16p12.2 microdeletion

KEY CLINICAL MESSAGE: From a literature review, this is the first case of fetal 16p12.2 microdeletion syndrome inherited from a normal father with autopsy description and evidence of spongious cardiomyopathy. First trimester intake of doxycycline could be a cofactor. ABSTRACT: Prenatal diagnosis of...

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Detalles Bibliográficos
Autores principales: Stabile, Mariano, Rispoli, Anna F., Capuozzo, Maurizio, Ferbo, Umberto, Stabile, Guglielmo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10315447/
https://www.ncbi.nlm.nih.gov/pubmed/37405046
http://dx.doi.org/10.1002/ccr3.7602