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
The evolving genetic landscape of telomere biology disorder dyskeratosis congenita.
Tummala H et al.
Embo Molecular Medicine, 2024
39198715 (PubMed )
Supplement: 44321_2024_118_MOESM4_ESM.xlsx › Dataset_EV1
Poikiloderma With Neutropenia and Mastocytosis: A Case Report and a Review of Dermatological Signs.
Piccolo V et al.
Frontiers in Medicine, 2021
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
Poikiloderma with neutropenia: genotype-ethnic origin correlation, expanding phenotype and literature review.
Koparir A et al.
American Journal of Medical Genetics. Part A, 2014
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
Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome.
Walne AJ et al.
Human Molecular Genetics, 2010
Poikiloderma With Neutropenia due to Novel USB1 Mutation.
Balan K et al.
Pediatric Dermatology, 0
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