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Jean-Pierre Mazutti

Explore the profile of Jean-Pierre Mazutti including associated specialties, affiliations and a list of published articles. Areas
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Lefebvre M, Bruel A, Tisserant E, Bourgon N, Duffourd Y, Collardeau-Frachon S, et al.
J Med Genet . 2020 Aug; 58(6):400-413. PMID: 32732226
Purpose: Molecular diagnosis based on singleton exome sequencing (sES) is particularly challenging in fetuses with multiple congenital abnormalities (MCA). Indeed, some studies reveal a diagnostic yield of about 20%, far...