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pro vyhledávání: '"Kristin Minner"'
Autor:
Kris De Boeck, Gert Matthijs, Marc Boogaerts, Kristin Minner, Marijke Proesmans, Eric Verbeken, Jacques Jaeken, Johan L.K. Van Hove, Anouk Demunter
Publikováno v:
American Journal of Medical Genetics Part A. :152-158
Two siblings from a consanguineous family presented with a poikiloderma of limbs and face, plantar keratoderma, and toenail pachyonychia. Neutropenia and neutrophil dysfunction with impairment of the respiratory burst and bacterial killing resulted i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc9a00078622a0ccad2e4edefd446169
https://doi.org/10.1002/ajmg.a.30430
https://doi.org/10.1002/ajmg.a.30430
