Assessment of intrafamilial clinical variability of poikiloderma with neutropenia by a 10-year follow-up of three affected siblings

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

Ludovica Volpi, Gaia Roversi, Elisa Adele Colombo et al. · The American Journal of Human Genetics · 2009 · 146 citations · Full text

Life Sciences, Genetics, Molecular Genetics +7

Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations

Elisa Adele Colombo, J. Fernando Bazán, Gloria Negri et al. · Orphanet Journal of Rare Diseases · 2012 · 49 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Poikiloderma with neutropenia: a novel<i>C16orf57</i>mutation and clinical diagnostic criteria

Andreas Arnold, Peter Itin, Manuela Pigors et al. · British Journal of Dermatology · 2010 · 43 citations

Life Sciences, Dermatology, Genetics +11

Identification of a novel <i>C16orf57</i> mutation in Athabaskan patients with Poikiloderma with Neutropenia

Carol L. Clericuzio, Karine G. Harutyunyan, Weidong Jin et al. · American Journal of Medical Genetics Part A · 2010 · 40 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Haematological disease in siblings with Rothmund-Thomson syndrome

Porter · Clinical and Experimental Dermatology · 1999 · 40 citations

Medicine, Hematology, Pediatrics +7