Article

A missense variant in the nuclear localization signal of DKC1 causes Hoyeraal-Hreidarsson syndrome

2022-05-31

Abstract excerpt

<title>Abstract</title> <p>Hoyeraal-Hreidarsson syndrome (HHS) is the most severe form of dyskeratosis congenita (DC) and is caused by genes involved in telomere maintenance. Here, we identified male siblings from a family with HHS carrying a hemizygous mutation (c.1345C>G, p.R449G), located in the C-terminal nuclear localization signal (NLS) of the DKC1 gene. These patients exhibit progressive cerebellar hypopla...

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Literature Corpus work: 2cc572d0-3968-5287-b544-26e8659701f5
DOI: 10.21203/rs.3.rs-1641825/v1

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