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Article

A frameshift insertion in FA2H causes a recessively inherited form of ichthyosis congenita in Chianina cattle.

Molecular genetics and genomics : MGG - 1 Nov 2021

Jacinto Joana G P, Häfliger Irene M, Veiga Inês M B, Letko Anna, Gentile Arcangelo, Drögemüller Cord

Abstract excerpt

The aim of this study was to characterize the phenotype and to identify the genetic etiology of a syndromic form of ichthyosis congenita (IC) observed in Italian Chianina cattle and to estimate the prevalence of the deleterious allele in the population. Sporadic occurrence of different forms of ichthyosis including IC have been previously reported in cattle. However, so far, no causative genetic variant has been...

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Identifiers

PMID: 34599683
DOI: 10.1007/s00438-021-01824-8
PMCID: PMC8550120

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