Associated Papers
Prenatal diagnosis of Neu-Laxova syndrome with compound heterozygous variants in PHGDH in a fetus presenting increased nuchal translucency and severe early-onset fetal growth restriction in a dichorionic diamniotic twin pregnancy.
Luo W et al.
Taiwanese Journal of Obstetrics & Gynecology, 2026
Mild phenotypes of phosphoglycerate dehydrogenase deficiency by a novel mutation of PHGDH gene: Case report and literature review.
Fu J et al.
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2023
Neu-Laxova syndrome presenting prenatally with increased nuchal translucency and cystic hygroma: The utility of exome sequencing in deciphering the diagnosis.
Bourque DK et al.
American Journal of Medical Genetics. Part A, 2019
Phosphoglycerate dehydrogenase (PHGDH) deficiency without epilepsy mimicking primary microcephaly.
Poli A et al.
American Journal of Medical Genetics. Part A, 2017
On the phenotypic spectrum of serine biosynthesis defects.
El-Hattab AW et al.
Journal of Inherited Metabolic Disease, 2016
Identification of a premature stop codon mutation in the PHGDH gene in severe Neu-Laxova syndrome-evidence for phenotypic variability.
Mattos EP et al.
American Journal of Medical Genetics. Part A, 2015
Select a paper to view details