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Article

Neu-Laxova syndrome: detailed prenatal diagnostic and post-mortem findings and literature review.

American journal of medical genetics. Part A - 15 Mar 2004

Manning Melanie A, Cunniff Christopher M, Colby Christopher E, El-Sayed Yasser Y, Hoyme H Eugene

Abstract excerpt

Neu-Laxova syndrome (NLS) is a lethal, autosomal recessive multiple malformation syndrome with many features resulting from severe skin restriction and decreased fetal movement. It is characterized by ichthyosis, marked intrauterine growth restriction (IUGR), microcephaly, short neck, central nervous system (CNS) anomalies, limb deformities, hypoplastic lungs, edema, and abnormal facial features including severe...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 14994231
DOI: 10.1002/ajmg.a.20467

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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