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First Prenatal Case of Genotypically and Phenotypically Overlapping Double Molecular Diagnosis of Van den Ende–Gupta and 22q11.2 Deletion Syndromes.

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Title: First Prenatal Case of Genotypically and Phenotypically Overlapping Double Molecular Diagnosis of Van den Ende–Gupta and 22q11.2 Deletion Syndromes.
Authors: Racine, Caroline1,2 (AUTHOR) caroline.racine@chu‐dijon.fr, Garde, Aurore1 (AUTHOR), Martz, Olivia3 (AUTHOR), Safraou, Hana2,4 (AUTHOR), Eluard, Vinciane3 (AUTHOR), Rousseau, Thierry3 (AUTHOR), Marle, Nathalie5 (AUTHOR), Harizay, Fara T.6 (AUTHOR), Martin, Laurent6 (AUTHOR), Maraval, Julien1 (AUTHOR), Bruel, Ange‐Line2,4 (AUTHOR), Philippe, Christophe2,4 (AUTHOR), Thauvin‐Robinet, Christel2,4 (AUTHOR), Faivre, Laurence1,2 (AUTHOR)
Source: Molecular Genetics & Genomic Medicine. Apr2025, Vol. 13 Issue 4, p1-8. 8p.
Database: Academic Search Ultimate
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Description
ISSN:23249269
DOI:10.1002/mgg3.70096