Articles with "deletion mixed" as a keyword



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NSDHL Frameshift Deletion in a Mixed Breed Dog with Progressive Epidermal Nevi

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Published in 2020 at "Genes"

DOI: 10.3390/genes11111297

Abstract: Loss-of-function variants in the NSDHL gene have been associated with epidermal nevi in humans with congenital hemidysplasia, ichthyosiform nevi, and limb defects (CHILD) syndrome and in companion animals. The NSDHL gene codes for the NAD(P)-dependent… read more here.

Keywords: frameshift deletion; nevi; deletion mixed; progressive epidermal ... See more keywords