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Case report: Antenatal diagnostic of a polymalformative syndrome due to biallelic BRCA2 mutations

Testing the partner of a BRCA2 carrier must always be discussed. If both members of the couple are BRCA2 carriers, they should be informed about the high risks of polymalformative syndromes.

Detalles Bibliográficos
Autores principales: Anquetil, Aude, Khung Savatovsky, Suonavy, Gavard, Laurent, Bazin, Anne, Guimiot, Fabien, Dubourg, Christele, Mandelbrot, Laurent, Picone, Olivier
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8457408/
https://www.ncbi.nlm.nih.gov/pubmed/34584710
http://dx.doi.org/10.1002/ccr3.4838