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
Hypogammaglobulinemia in a Child with Clericuzio-Type Poikiloderma with Neutropenia.
Tekcan D et al.
Pediatric Allergy, Immunology, and Pulmonology, 2024
The evolving genetic landscape of telomere biology disorder dyskeratosis congenita.
Tummala H et al.
Embo Molecular Medicine, 2024
USB1 is a miRNA deadenylase that regulates hematopoietic development.
Jeong HC et al.
Science (new York, N.y.), 2023
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 and Mastocytosis: A Case Report and a Review of Dermatological Signs.
Piccolo V et al.
Frontiers in Medicine, 2021
A novel dominant mutation in CRYAB gene leading to a severe phenotype with childhood onset.
Marcos AT et al.
Molecular Genetics & Genomic Medicine, 2020
Poikiloderma with Neutropenia, Clericuzio-Type Accompanied by Loss of Digits Due to Severe Osteomyelitis.
Akdogan N et al.
Journal of Clinical Immunology, 2020
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
Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis.
Walne AJ et al.
Haematologica, 2016
Juvenile Idiopathic Inflammatory Myopathy in a Patient With Dyskeratosis Congenita Due to C16orf57 Mutation.
Kilic SS et al.
Journal of Pediatric Hematology/oncology, 2016
Clericuzio-type Poikiloderma with Neutropenia Syndrome in a Turkish Family: a Three Report of Siblings with Mutation in the C16orf57 gene.
Patiroglu T et al.
Iranian Journal of Allergy, Asthma, and Immunology, 2015
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
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