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Article

Neu-Laxova syndrome, an inborn error of serine metabolism, is caused by mutations in PHGDH.

American journal of human genetics - 5 Jun 2014

Shaheen Ranad, Rahbeeni Zuhair, Alhashem Amal, Faqeih Eissa, Zhao Qi, Xiong Yong, Almoisheer Agaadir, Al-Qattan Sarah M, Almadani Halima A, Al-Onazi Noufa, Al-Baqawi Badi S, Saleh Mohammad Ali, Alkuraya Fowzan S

Abstract excerpt

Neu-Laxova syndrome (NLS) is a rare autosomal-recessive disorder characterized by severe fetal growth restriction, microcephaly, a distinct facial appearance, ichthyosis, skeletal anomalies, and perinatal lethality. The pathogenesis of NLS remains unclear despite extensive clinical and pathological phenotyping of the >70 affected individuals reported to date, emphasizing the need to identify the underlying...

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Source

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Identifiers

PMID: 24836451
DOI: 10.1016/j.ajhg.2014.04.015
PMCID: PMC4121479

Genes

PHGDH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

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Neu-Laxova syndrome, an inborn error of serine metabolism, is caused by mutations in PHGDH.PMID 24836451Read ↗

Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway.Semantic proximity Read ↗

Identification of a premature stop codon mutation in the PHGDH gene in severe Neu-Laxova syndrome-evidence for phenotypic variability.Semantic proximity Read ↗

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Identification of a Novel Compound Heterozygous Mutation of PHGDH in Neu–Laxova SyndromeSemantic proximity Read ↗

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