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Neu Laxova syndrome and megacystis in the first trimester: Broadening the fetal phenotype.

Prenatal diagnosis - 1 Dec 2023

Bourgon Nicolas, Chen Ruiqian, Grangé Gilles, Grotto Sarah, Molac Clémence, Loeuillet Laurence, Attié-Bitach Tania

Abstract excerpt

Neu Laxova syndrome (NLS) is a rare and lethal congenital disorder characterized by severe intra-uterine growth retardation (IUGR), ichthyosis, abnormal facial features, limb abnormalities with arthrogryposis and a wide spectrum of severe malformations of the central nervous system (CNS). NLS is due to biallelic variants in three genes previously involved in serine-deficiency disorders (PHGDH, PSAT1 and PSPH),...

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Identifiers

PMID: 37964427
DOI: 10.1002/pd.6463

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Neu Laxova syndrome and megacystis in the first trimester: Broadening the fetal phenotype.PMID 37964427Read ↗

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A spectrum of phenotypical expression OF Neu-Laxova syndrome: Three case reports and a review of the literature.Semantic proximity Read ↗

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