Infant Born With Autosomal Recessive Glycogen Storage Disease Type IV due to Complete Maternal Isodisomy of Chromosome 3

Uniparental disomy (UPD), the inheritance of two copies of a chromosome from one parent, can lead to recessive genetic disorders or imprinting effects. We report a case of autosomal recessive glycogen storage disease type 4 (GSD IV) due to maternal UPD of chromosome 3, representing the first reporte...

Full description

Bibliographic Details

Published in:	Case Reports in Genetics
Main Authors:	Sigrid Skovby Olsen, Anja Ernst, Pia Sønderby Christensen, Ellen Dagmar Björnsdóttir, Lasse Ringsted Mark, Albert Vejlin Stefansen, Allan Thomas Højland
Format:	Article
Language:	English
Published:	Wiley 2025-01-01
Online Access:	http://dx.doi.org/10.1155/crig/5577571