Novel Homozygous GLDC variants causing Late-onset Glycine Encephalopathy: A Case report and Updated Review of the Literature
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Presenting Author - Minh-Tuan HUYNH, MD PhD; Co-Author - Emilie LANDAIS, Phd; Co-Author - Jean-Madeleine De Sainte Agathe, MD; Co-Author - Anne Panchout, Ms., Sage-femme; Co-Author - Henri Bruel, MD;
Meta Tag
array CGH
Biochemical genetics
Congenital Anomaly
Dysmorphology
Exome sequencing
Genotype-Phenotype Correlations
Metabolic Disorder
Co-Author Emilie LANDAIS, Phd
Co-Author Jean-Madeleine De Sainte Agathe, MD
Co-Author Anne Panchout, Ms., Sage-femme
Co-Author Henri Bruel, MD
Presenting Author Minh-Tuan HUYNH, MD PhD
Keywords
GLDC variant
late-onset glycine encephalopathy
global developmental delay
epilepsy
polyhydramnios
chorioangioma
premature birth
Dandy-Walker malformation
seizures
facial dysmorphism

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