Associated Papers
Insights Into Poikiloderma With Neutropenia: Genotypic and Phenotypic Analysis of 90 Cases With a New Case Report.
Becker M et al.
American Journal of Medical Genetics. Part A, 2026
Insights into Mutation Effect in Three Poikiloderma with Neutropenia Patients by Transcript Analysis and Disease Evolution of Reported Patients with the Same Pathogenic Variants.
Colombo EA et al.
Journal of Clinical Immunology, 2018
Clinical utility gene card for: poikiloderma with neutropenia.
Larizza L et al.
European Journal of Human Genetics : Ejhg, 2013
Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations.
Colombo EA et al.
Orphanet Journal of Rare Diseases, 2012
Identification of a novel C16orf57 mutation in Athabaskan patients with Poikiloderma with Neutropenia.
Clericuzio C et al.
American Journal of Medical Genetics. Part A, 2011
Poikiloderma with neutropenia: a novel C16orf57 mutation and clinical diagnostic criteria.
Arnold AW et al.
The British Journal of Dermatology, 2010
Clericuzio-type poikiloderma with neutropenia syndrome in three sibs with mutations in the C16orf57 gene: delineation of the phenotype.
Concolino D et al.
American Journal of Medical Genetics. Part A, 2010
Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene.
Volpi L et al.
American Journal of Human Genetics, 2010
Select a paper to view details