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
A novel mutation in poikiloderma with neutropenia- Clericuzio type in an adult female.
Chawla H et al.
Indian Journal of Dermatology, Venereology and Leprology, 2025
Lymphopenia with Low T and NK Cells in a Patient with USB1 Mutation, Rare Findings in Clericuzio-Type Poikiloderma with Neutropenia.
Bilgic Eltan S et al.
Journal of Clinical Immunology, 2021
Poikiloderma with neutropenia: genotype-ethnic origin correlation, expanding phenotype and literature review.
Koparir A et al.
American Journal of Medical Genetics. Part A, 2014
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
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