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A Missense Mutation in the Collagen Triple Helix of EDA Is Associated with X-Linked Recessive Hypohidrotic Ectodermal Dysplasia in Fleckvieh Cattle.

Genes - 20 Dec 2023

Reinartz Sina, Weiß Christine, Heppelmann Maike, Hewicker-Trautwein Marion, Hellige Maren, Willen Laure, Feige Karsten, Schneider Pascal, Distl Ottmar

Abstract excerpt

Mutations within the ectodysplasin A (EDA) gene have been associated with congenital hypotrichosis and anodontia (HAD/XHED) in humans, mice, dogs and cattle. We identified a three-generation family of Fleckvieh cattle with male calves exhibiting clinical and histopathological signs consistent with an X-linked recessive HAD (XHED). Whole genome and Sanger sequencing of cDNA showed a perfect association of the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Limb Deformities, Congenital

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Identifiers

PMID: 38275590
DOI: 10.3390/genes15010008
PMCID: PMC10815684

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A Missense Mutation in the Collagen Triple Helix of EDA Is Associated with X-Linked Recessive Hypohidrotic Ectodermal Dysplasia in Fleckvieh Cattle.PMID 38275590Read ↗

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