Prenatal Diagnosis of Fryns Syndrome through Identification of Two Novel Splice Variants in the <i>PIGN</i> Gene—A Case Series

Prenatal Diagnosis of Fryns Syndrome through Identification of Two Novel Splice Variants in the <i>PIGN</i> Gene—A Case Series

Fryns syndrome (FS) is a multiple congenital anomaly syndrome with different multisystemic malformations. These include congenital diaphragmatic hernia, pulmonary hypoplasia, and craniofacial dysmorphic features in combination with malformations of the central nervous system such as agenesis of the...

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Bibliographic Details
Main Authors: Aruna Marchetto, Susanne Leidescher, Theresia van Hoi, Niklas Hirschberger, Florian Vogel, Siegmund Köhler, Ivonne Alexandra Bedei, Roland Axt-Fliedner, Moneef Shoukier, Corinna Keil
Format: Article
Language:English
Published: MDPI AG 2024-05-01
Series:Life
Subjects:
<i>PIGN</i>
Fryns syndrome
prenatal diagnosis
RNA sequencing
Online Access:https://www.mdpi.com/2075-1729/14/5/628

Internet

https://www.mdpi.com/2075-1729/14/5/628

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