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Article

Langer mesomelic dysplasia in early fetuses: two cases and a literature review.

Fetal and pediatric pathology - 1 Apr 2014

Ambrosetti Fabrizio, Palicelli Andrea, Bulfamante Gaetano, Rivasi Francesco

Abstract excerpt

In the article, we report the autoptic, histological and radiographic phenotype of two fetuses (22 and 12 weeks) with Langer mesomelic dysplasia, a homozygous deletion of the 3' enhancer of the SHOX gene, and consanguineous parents affected by Léri-Weill dyschondrosteosis, performing a literature review of the primary forms of mesomelic dysplasia. A proper identification of the type of mesomelic dysplasia is...

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Source

Identifiers

PMID: 23883335
DOI: 10.3109/15513815.2013.807322

Genes

SHOX

Provenance

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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