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Last Updated: 10/31/2025
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Found 24 publications
Fetal Phenotyping and Whole Exome Sequencing for 12 Egyptian Families With Serine Biosynthesis Defect: Novel Clinical and Allelic Findings With a Founder Effect.
Journal: Prenatal diagnosis
Published: July 23, 2024
Long-surviving Neu-Laxova syndrome confirmed by whole exome sequencing: a case report.
Journal: Hong Kong medical journal = Xianggang yi xue za zhi
Published: May 29, 2024
PHGDH-related microcephalic dwarfism in two fetuses: Expanding the phenotypical spectrum of L-serine biosynthesis defect.
Journal: European journal of medical genetics
Published: July 02, 2023
Neu Laxova syndrome and megacystis in the first trimester: Broadening the fetal phenotype.
Journal: Prenatal diagnosis
Published: April 30, 2023
Putting It All Together: Postmortem Diagnosis of a Rare Ichthyosis Syndrome.
Journal: Cureus
Published: April 24, 2023
Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders.
Journal: Human mutation
Published: April 22, 2020
Novel and recurrent PHGDH and PSAT1 mutations in Chinese patients with Neu-Laxova syndrome.
Journal: European journal of dermatology : EJD
Published: January 07, 2020
A yeast-based complementation assay elucidates the functional impact of 200 missense variants in human PSAT1.
Journal: Journal of inherited metabolic disease
Published: December 19, 2019
Clinical, molecular, and pathological findings in a Neu-Laxova syndrome stillborn: A Brazilian case report.
Journal: American journal of medical genetics. Part A
Published: October 28, 2019
Neu-Laxova syndrome presenting prenatally with increased nuchal translucency and cystic hygroma: The utility of exome sequencing in deciphering the diagnosis.
Journal: American journal of medical genetics. Part A
Published: October 13, 2018
Prenatal genetic diagnosis of Neu-Laxova syndrome.
Journal: Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology
Published: September 15, 2017
Last Updated: 10/31/2025