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pro vyhledávání: '"Mikko Vakkilainen, MSc"'
Autor:
Eetu Pello, MD, Leena Kainulainen, MD, PhD, Mikko Vakkilainen, MSc, Paula Klemetti, MD, PhD, Mervi Taskinen, MD, PhD, Outi Mäkitie, MD, PhD, Svetlana Vakkilainen, MD, PhD
Publikováno v:
Journal of Allergy and Clinical Immunology: Global, Vol 3, Iss 1, Pp 100190- (2024)
Background: Cartilage–hair hypoplasia (CHH) is a syndromic inborn error of immunity caused by variants in the RMRP gene. Disease manifestations vary, and their ability to predict outcome is uncertain. The optimal management of infants with CHH who
Externí odkaz:
https://doaj.org/article/ab35bfd8701d45edb02fe235ad93b1ef