| 1 | HVSL1, PNCT
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| Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene.
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| Volpi L, Roversi G, Colombo EA, Leijsten N, Concolino D, Calabria A, Mencarelli MA, Fimiani M, Macciardi F, Pfundt R, Schoenmakers EF, Larizza L.
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| Am J Hum Genet 86(1):72-6. Epub 2009 Dec 10.PMID: 2000488 2010
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| 2 | HVSL1, PNCT
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| Identification of a homozygous deletion mutation in C16orf57 in a family with Clericuzio-type poikiloderma with neutropenia.
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| Tanaka A, Morice-Picard F, Lacombe D, Nagy N, Hide M, Taïeb A, McGrath J.
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| Am J Med Genet A 152A(6):1347-8. No abstract available. PMID: 20503306 2010
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| 3 | HVSL1, PNCT, RTS
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| Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome.
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| Walne AJ, Vulliamy T, Beswick R, Kirwan M, Dokal I.
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| Hum Mol Genet 19(22):4453-61. Epub 2010 Sep 3.
2010
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| 4 | HVSL1, PNCT
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| Poikiloderma with neutropenia, Clericuzio type, in a family from Morocco.
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| Mostefai R, Morice-Picard F, Boralevi F, Sautarel M, Lacombe D, Stasia MJ, McGrath J, Ta�eb A.
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| Am J Med Genet A 146A(21):2762-9.PMID: 18925663 2008
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| 5 | FNBP4, HVSL1, TCTA, TPRN, TTC37, ZFP2, ZNF341, ZNF484, ZSCAN4
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| Functional proteomics mapping of a human signaling pathway.
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| Colland F, Jacq X, Trouplin V, Mougin C, Groizeleau C, Hamburger A, Meil A, Wojcik J, Legrain P, Gauthier JM.
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| Genome Res 14(7):1324-32. 2004
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