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Article

The VACTERL association: lessons from the Sonic hedgehog pathway.

Clinical genetics - 1 May 2001

Kim J, Kim P, Hui C C

Abstract excerpt

VACTERL represents a non-random association of congenital anomalies in humans of poorly known etiology and pathogenesis. From our mutant analysis of Gli genes, which encode transcription factors mediating Sonic hedgehog (Shh) signal transduction, we observed that defective Shh signaling leads to a spectrum of developmental anomalies in mice strikingly similar to those of VACTERL. In this review, we will discuss...

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Identifiers

PMID: 11359461
DOI: 10.1034/j.1399-0004.2001.590503.x

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

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