| 1 | DKC1, HHS
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| Hoyeraal-Hreidarsson syndrome with a DKC1 mutation identified by whole-exome sequencing.
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| Lim BC, Yoo SK, Lee S, Shin JY, Hwang H, Chae JH, Hwang YS, Seo JS, Kim JI, Kim KJ.
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| Gene 546(2):425-9. doi: 10.1016/j.gene.2014.06.011. Epub 2014 Jun 7.
2014
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| 2 | DKC1, HHS
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| An intronic mutation in DKC1 in an infant with Høyeraal-Hreidarsson syndrome.
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| Pearson T, Curtis F, Al-Eyadhy A, Al-Tamemi S, Mazer B, Dror Y, Abish S, Bale S, Compton J, Ray R, Scott P, Der Kaloustian VM.
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| Am J Med Genet A 146A(16):2159-61. No abstract available.
2008
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| 3 | DKC1, HHS
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| Further delineation of the congenital form of X-linked dyskeratosis congenita (Hoyeraal-Hreidarsson syndrome).
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| Sznajer Y, Baumann C, David A, Journel H, Lacombe D, Perel Y, Blouin P, Segura JF, Cezard JP, Peuchmaur M, Vulliamy T, Dokal I, Verloes A.
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| Eur J Pediatr 162(12):863-7. Epub 2003 Sep 30. Review. 2003
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