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Article

Homozygous WNT3 mutation causes tetra-amelia in a large consanguineous family.

American journal of human genetics - 1 Mar 2004

Niemann Stephan, Zhao Chengfeng, Pascu Filon, Stahl Ulrich, Aulepp Ute, Niswander Lee, Weber James L, Müller Ulrich

Abstract excerpt

Tetra-amelia is a rare human genetic disorder characterized by complete absence of all four limbs and other anomalies. We studied a consanguineous family with four affected fetuses displaying autosomal recessive tetra-amelia and craniofacial and urogenital defects. By homozygosity mapping, the disease locus was assigned to chromosome 17q21, with a maximum multipoint LOD score of 2.9 at markers D17S931, D17S1785,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 14872406
DOI: 10.1086/382196
PMCID: PMC1182269

Genes

WNT3

Provenance

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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