Poikiloderma with neutropenia: a novel<i>C16orf57</i>mutation and clinical diagnostic criteria

Andreas Arnold(University Hospital of Basel), Cristina Has(University Medical Center Freiburg), Leena Bruckner‐Tuderman(University Medical Center Freiburg), Jürgen Kohlhase, Peter Itin(University Hospital of Basel), Manuela Pigors(University of Lübeck)
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