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
Hypogammaglobulinemia in a Child with Clericuzio-Type Poikiloderma with Neutropenia.
Tekcan D et al.
Pediatric Allergy, Immunology, and Pulmonology, 2024
Defective monocyte plasticity and altered cAMP pathway characterize USB1-mutated poikiloderma with neutropenia Clericuzio type.
Parajuli P et al.
British Journal of Haematology, 2024
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
Poikiloderma with neutropenia: report of three cases including one with calcinosis cutis.
Chantorn R et al.
Pediatric Dermatology, 0
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