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
Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes.
Piard J et al.
Clinical Genetics, 2015
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
Systematic search for neutropenia should be part of the first screening in patients with poikiloderma.
Piard J et al.
European Journal of Medical Genetics, 2012
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