In-Depth Phenotyping of <i>PIGW</i>-Related Disease and Its Role in 17q12 Genomic Disorder

In-Depth Phenotyping of <i>PIGW</i>-Related Disease and Its Role in 17q12 Genomic Disorder

Glycosylphosphatidylinositol (GPI) biosynthesis defect 11 (GPIBD11), part of the heterogeneous group of congenital disorders of glycosylation, is caused by biallelic pathogenic variants in <i>PIGW</i>. This rare disorder has previously been described in only 12 patients. We report four n...

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Bibliographic Details
Main Authors: Agnese Feresin, Mathilde Lefebvre, Emilie Sjøstrøm, Caterina Zanus, Elisa Paccagnella, Irene Bruno, Erica Valencic, Anna Morgan, Alberto Tommasini, Christel Thauvin, Allan Bayat, Giorgia Girotto, Luciana Musante
Format: Article
Language:English
Published: MDPI AG 2024-12-01
Series:Biomolecules
Subjects:
<i>PIGW</i>
GPIBD11
heart malformation
epilepsy
fetus
17q12 genomic disorder
Online Access:https://www.mdpi.com/2218-273X/14/12/1626
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