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pro vyhledávání: '"Kirsten Mouradian"'
Autor:
Yael Gernez, Mansi Narula, Alma-Martina Cepika, Juanita Valdes Camacho, Elisabeth G. Hoyte, Kirsten Mouradian, Bertil Glader, Deepika Singh, Bindu Sathi, Latha Rao, Ana L. Tolin, Kenneth I. Weinberg, David B. Lewis, Rosa Bacchetta, Katja G. Weinacht
Publikováno v:
Frontiers in Immunology, Vol 14 (2024)
Biallelic mutations in the ACP5 gene cause spondyloenchondrodysplasia with immune dysregulation (SPENCDI). SPENCDI is characterized by the phenotypic triad of skeletal dysplasia, innate and adaptive immune dysfunction, and variable neurologic finding
Externí odkaz:
https://doaj.org/article/3352cc1afba34f049e385d6523a3af06
