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Article

PCYT1A Missense Variant in Vizslas with Disproportionate Dwarfism.

Genes - 13 Dec 2022

Ludwig-Peisker Odette, Ansel Emily, Schweizer Daniela, Jagannathan Vidhya, Loechel Robert, Leeb Tosso

Abstract excerpt

Disproportionate dwarfism phenotypes represent a heterogeneous subset of skeletal dysplasias and have been described in many species including humans and dogs. In this study, we investigated Vizsla dogs that were affected by disproportionate dwarfism that we propose to designate as skeletal dysplasia 3 (SD3). The most striking skeletal changes comprised a marked shortening and deformation of the humerus and...

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Identifiers

PMID: 36553621
DOI: 10.3390/genes13122354
PMCID: PMC9777673

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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