Neu Laxova Syndrome Latest Advances

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