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Mosaic IL6ST variant inducing constitutive GP130 cytokine receptor signaling as a cause of neonatal onset immunodeficiency with autoinflammation and dysmorphy.
Materna-Kiryluk A, Pollak A, Gawalski K, Szczawinska-Poplonyk A, Rydzynska Z, Sosnowska A, Cukrowska B, Gasperowicz P, Konopka E, Pietrucha B, Grzywa TM, Banaszak-Ziemska M, Niedziela M, Skalska-Sadowska J, Stawiński P, Śladowski D, Nowis D, Ploski R. Materna-Kiryluk A, et al. Among authors: banaszak ziemska m. Hum Mol Genet. 2021 Apr 26;30(3-4):226-233. doi: 10.1093/hmg/ddab035. Hum Mol Genet. 2021. PMID: 33517393
PAPP-A2 a new key regulator of growth.
Banaszak-Ziemska M, Niedziela M. Banaszak-Ziemska M, et al. Endokrynol Pol. 2017;68(6):682-691. doi: 10.5603/EP.a2017.0060. Endokrynol Pol. 2017. PMID: 29238946 Free article. Review.