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Article

Clinical, molecular, and pathological findings in a Neu-Laxova syndrome stillborn: A Brazilian case report.

American journal of medical genetics. Part A - 1 Jun 2020

Cavole Thiago R, Perrone Eduardo, Lucena de Castro Felipe S C, Alvarez Perez Ana B, Waitzberg Angela Flávia L, Cernach Mirlene C S P

Abstract excerpt

Neu-Laxova syndrome (NLS) is a lethal genetic multiple congenital anomaly syndrome of unknown prevalence representing the severe spectrum of serine biosynthesis defects associated with PHGDH, PSAT1, or PSP gene mutations. The purpose of this study was to describe clinical/molecular and pathologic features of a NLS case caused by novel heterozygous missense variant in PHGDH gene identified in his consanguineous...

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Identifiers

PMID: 32196970
DOI: 10.1002/ajmg.a.61559

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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.

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Clinical, molecular, and pathological findings in a Neu-Laxova syndrome stillborn: A Brazilian case report.PMID 32196970Read ↗

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