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
Assessment of intrafamilial clinical variability of poikiloderma with neutropenia by a 10-year follow-up of three affected siblings.
Concolino D et al.
European Journal of Medical Genetics, 2019
Genome-wide discovery of human splicing branchpoints.
Mercer TR et al.
Genome Research, 2015
25561518 (PubMed )
Supplement: supp_gr.182899.114_Supplemental_TableS3.xlsx › HGMD_predictedMotifs
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
Identification of a homozygous deletion mutation in C16orf57 in a family with Clericuzio-type poikiloderma with neutropenia.
Tanaka A 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
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