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Prenatal Diagnosis of Fryns Syndrome through Identification of Two Novel Splice Variants in the PIGN Gene—A Case Series.

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Title: Prenatal Diagnosis of Fryns Syndrome through Identification of Two Novel Splice Variants in the PIGN Gene—A Case Series.
Authors: Marchetto, Aruna1 (AUTHOR) shoukier@praenatal-medizin.de, Leidescher, Susanne1 (AUTHOR), van Hoi, Theresia1 (AUTHOR), Hirschberger, Niklas1 (AUTHOR), Vogel, Florian1 (AUTHOR), Köhler, Siegmund2 (AUTHOR) siegmund.koehler@med.uni-marburg.de, Bedei, Ivonne Alexandra3 (AUTHOR), Axt-Fliedner, Roland3 (AUTHOR), Shoukier, Moneef1 (AUTHOR), Keil, Corinna2 (AUTHOR) corinna.keil@med.uni-marburg.de
Source: Life (2075-1729). May2024, Vol. 14 Issue 5, p628. 11p.
Database: Academic Search Ultimate
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ISSN:20751729
DOI:10.3390/life14050628