Author

Y. Muro

2 papers indexed here

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Open access Oct 2026

Clinical characteristics and severity classification in Mixed Connective Tissue Disease: a nationwide retrospective study.

OBJECTIVES To characterize clinical manifestations, major organ involvement, real-world treatment patterns, and factors associated with severity classification in Japanese patients with mixed connective tissue disease (MCTD), aiming to clarify its heterogeneous clinical spectrum. METHODS This nationwide retrospective...

S. Kubo, Yurie Kanda, Hideto Kameda et al. · Rheumatology · 0 citations

Review Open access Aug 2026

A case of Costello syndrome with a hotspot HRAS substitution p.Gly12Ser and an in silico analysis of the correlation between genotype and clinical severity

Costello syndrome (CS) is a rare RASopathy caused by germline-activating variants in HRAS . We report a Japanese boy with CS harboring the hotspot substitution c.34G>A p.(Gly12Ser) and assess whether computational pathogenicity prediction (AlphaMissense) aligns with clinical severity scores. The patient developed...

Rikako Isobe, T. Takeichi, Michiya Omi et al. · Zhōnghuá Pífūkē Yīxué Zázhì · 0 citations