A missense variant in the nuclear localization signal of DKC1 causes Hoyeraal-Hreidarsson syndromeChia-Mei Chu(National Taiwan University), C. K. Tseng(Kowloon Hospital)npj Genomic MedicineOctober 30, 202210.1038/s41525-022-00335-8Cited by 9SaveCiteExport RISWatch citationsRelated PapersA missense variant in the nuclear localization signal of DKC1 causes Hoyeraal-Hreidarsson syndrome|Research Square|2022|1