Prevalence of the <i>RAPGEF5</i> c. <scp>2624C</scp> >A and <i>PLOD1</i> c. <scp>2032G</scp> >A variants associated with equine familial isolated hypoparathyroidism and fragile foal syndrome in the <scp>US</scp> Thoroughbred population (1988

Prevalence of the RAPGEF5 c. 2624C >A and PLOD1 c. 2032G >A variants associated with equine familial isolated hypoparathyroidism and fragile foal syndrome in the US Thoroughbred population (1988–2019)

Published:2022-10-18 Issue: Volume: Page:
ISSN:0425-1644
Container-title:Equine Veterinary Journal
language:en
Short-container-title:Equine Veterinary Journal

Author:

Elcombe Megan E.¹²,Bellone Rebecca R.¹²^ORCID,Magdesian K. Gary³^ORCID,Finno Carrie J.¹^ORCID

Affiliation:

1. Department of Population Health and Reproduction School of Veterinary Medicine, University of California‐Davis Davis California USA

2. Veterinary Genetics Laboratory School of Veterinary Medicine, University of California‐Davis Davis California USA

3. Department of Medicine and Epidemiology School of Veterinary Medicine, University of California‐Davis Davis California USA

Funder

NIH Office of the Director

UC Davis Center for Equine Health

Publisher

Wiley

Subject

General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/evj.13883

Reference13 articles.

1. Idiopathic Hypocalcemia in Foals

2. A nonsense variant in Rap Guanine Nucleotide Exchange Factor 5 (RAPGEF5) is associated with equine familial isolated hypoparathyroidism in Thoroughbred foals

3. Skin malformations in a neonatal foal tested homozygous positive for Warmblood Fragile Foal Syndrome

4. First reported case of fragile foal syndrome type 1 in the Thoroughbred caused by PLOD1 c.2032G>A

5. Distribution of the Warmblood Fragile Foal Syndrome Type 1 Mutation (PLOD1 c.2032G>A) in Different Horse Breeds from Europe and the United States

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