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Article

A large deletion encompassing exon 2 of the ectodysplasin A (EDA) gene in a British blue crossbred calf with hypohidrotic ectodermal dysplasia.

Acta veterinaria Scandinavica - 6 Sept 2022

Capuzzello Giovanni, Jacinto Joana Gonçalves Pontes, Häfliger Irene Monika, Chapman Gail E, Martin Sara Soto, Viora Lorenzo, Jonsson Nicholas N, Drögemüller Cord

Abstract excerpt

BACKGROUND: Hypohidrotic ectodermal dysplasia (HED) is a congenital syndrome of mammals affecting organs and tissues of ectodermal origin characterized by absence or hypoplasia of hair, teeth, and eccrine glands. The disorder has been reported in several species, including humans, mice, dogs and cattle, associated with variants in genes affecting the ectodysplasin pathway, including the X-linked ectodysplasin A...

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Identifiers

PMID: 36068608
DOI: 10.1186/s13028-022-00641-2
PMCID: PMC9446731

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