PMC Links for OMIM (Select 613276) - PMC

Select item 82229001.

Poikiloderma With Neutropenia and Mastocytosis: A Case Report and a Review of Dermatological Signs

Vincenzo Piccolo, Teresa Russo, Daniela Di Pinto, Elvira Pota, Martina Di Martino, Giulio Piluso, Andrea Ronchi, Giuseppe Argenziano, Eugenia Veronica Di Brizzi, Claudia Santoro

Front Med (Lausanne) 2021; 8: 680363. Published online 2021 Jun 10. doi: 10.3389/fmed.2021.680363

PMCID:: PMC8222900

Abstract Article PDF–2.3M

Select item 48675682.

Rothmund–Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene

Aude‐Annick Suter, Peter Itin, Karl Heinimann, Munaza Ahmed, Tazeen Ashraf, Helen Fryssira, Usha Kini, Pablo Lapunzina, Peter Miny, Mette Sommerlund, Mohnish Suri, Signe Vaeth, Pradeep Vasudevan, Sabina Gallati

Mol Genet Genomic Med. 2016 May; 4(3): 359–366. Published online 2016 Feb 24. doi: 10.1002/mgg3.209

PMCID:: PMC4867568

Abstract Article PDF–777K

Select item 34354953.

C16orf57, a gene mutated in poikiloderma with neutropenia, encodes a putative phosphodiesterase responsible for the U6 snRNA 3′ end modification

Seweryn Mroczek, Joanna Krwawicz, Jan Kutner, Michal Lazniewski, Iwo Kuciński, Krzysztof Ginalski, Andrzej Dziembowski

Genes Dev. 2012 Sep 1; 26(17): 1911–1925. doi: 10.1101/gad.193169.112

PMCID:: PMC3435495

Abstract Article PDF–2.5M

Select item 30695034.

Identification of a Novel C16orf57 Mutation in Athabaskan Patients with Poikiloderma with Neutropenia

Carol Clericuzio, Karine Harutyunyan, Weidong Jin, Robert P. Erickson, Alan D. Irvine, W.H. Irwin McLean, Yaran Wen, Rochelle Bagatell, Thomas A. Griffin, Tor A. Shwayder, Sharon E. Plon, Lisa L. Wang

Am J Med Genet A. Author manuscript; available in PMC 2012 Feb 1.

Published in final edited form as: Am J Med Genet A. 2011 Feb; 155(2): 337–342. Published online 2010 Dec 22. doi: 10.1002/ajmg.a.33807

PMCID:: PMC3069503

Abstract Article PDF–131K

Select item 29573225.

Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund–Thomson syndrome

Amanda J. Walne, Tom Vulliamy, Richard Beswick, Michael Kirwan, Inderjeet Dokal

Hum Mol Genet. 2010 Nov 15; 19(22): 4453–4461. Published online 2010 Sep 3. doi: 10.1093/hmg/ddq371

PMCID:: PMC2957322

Abstract Article PDF–288K

Select item 28017436.

Targeted Next-Generation Sequencing Appoints C16orf57 as Clericuzio-Type Poikiloderma with Neutropenia Gene

Ludovica Volpi, Gaia Roversi, Elisa Adele Colombo, Nico Leijsten, Daniela Concolino, Andrea Calabria, Maria Antonietta Mencarelli, Michele Fimiani, Fabio Macciardi, Rolph Pfundt, Eric F.P.M. Schoenmakers, Lidia Larizza

Am J Hum Genet. 2010 Jan 8; 86(1): 72–76. doi: 10.1016/j.ajhg.2009.11.014

Correction in:: Am J Hum Genet. 2010 Sep 10; 87(3): 445.

PMCID:: PMC2801743

Article PDF–991K

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