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Article

A contracted DNA repeat in LHX3 intron 5 is associated with aberrant splicing and pituitary dwarfism in German shepherd dogs.

PloS one - 1 Jan 2011

Voorbij Annemarie M W Y, van Steenbeek Frank G, Vos-Loohuis Manon, Martens Ellen E C P, Hanson-Nilsson Jeanette M, van Oost Bernard A, Kooistra Hans S, Leegwater Peter A

Abstract excerpt

Dwarfism in German shepherd dogs is due to combined pituitary hormone deficiency of unknown genetic cause. We localized the recessively inherited defect by a genome wide approach to a region on chromosome 9 with a lod score of 9.8. The region contains LHX3, which codes for a transcription factor essential for pituitary development. Dwarfs have a deletion of one of six 7 bp repeats in intron 5 of LHX3, reducing...

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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: 22132174
DOI: 10.1371/journal.pone.0027940
PMCID: PMC3223203

Genes

LHX3

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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