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
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
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 in a Tunisian patient with a novel C16orf57 gene mutation.
Sakka R et al.
Pediatric Blood & Cancer, 2018
Poikiloderma with Neutropenia in Morocco: a Report of Four Cases.
Aglaguel A et al.
Journal of Clinical Immunology, 2017
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
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
[CFC syndrome in mother and daughter: a syndrome distinct from Noonan syndrome].
Blanchet-Bardon C et al.
Annales De Dermatologie Et De Venereologie, 1991
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