Early fatal course in siblings with CDG-Ia (caused by two novel mutations in the PMM2 gene): clinical, molecular and autopsy findings.
Wurm
Donald
D
Department of Pediatrics and Neonatology, University Children's Hospital, Kirrbergerstrasse, Building 9, 66421, Homburg/Saar, Germany. donaldwurm@freenet.de
Hänsgen
Andrea
A
Kim
Yoo-Jin
YJ
Lindinger
Angelika
A
Baghai
Ali
A
Gortner
Ludwig
L
D000483:Alleles; D001344:Autopsy; D018981:Congenital Disorders of Glycosylation / Q000201:enzymology / Q000235:genetics*; D017809:Fatal Outcome; D005260:Female; D005838:Genotype; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D010641:Phenotype; D017875:Phosphotransferases (Phosphomutases) / Q000235:genetics*; D035781:Siblings
D017875:Phosphotransferases (Phosphomutases)