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 heterozygous USB1 variant linked to immunodeficiency.
Valagussa A et al.
Journal of Human Immunity, 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
The Role of Genetic Testing in Hereditary Poikiloderma: A Case Report.
El-Heis S et al.
Global Pediatric Health, 2017
Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis.
Walne AJ et al.
Haematologica, 2016
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