Pediatrics and neonatology
Cohen syndrome and neutropenia: Unveiling a novel VPS13B variant and literature review.
Gioacchino Andrea Rotulo, Lorenzo Sinibaldi, Elisa Profeti, Ludovica Ricci, Donato Amodio, Stefania Ferradino, Giancarlo Iarossi, Gigliola Di Matteo, Chiara Passarelli, Antonio Novelli, Paolo Palma, Andrea Finocchi
Published: 202510.1016/j.pedneo.2025.08.010
Abstract
OBJECTIVE: To report a novel VPS13B variant and to describe the prevalence of neutropenia and immunological clinical features in patients with Cohen syndrome (CS). STUDY DESIGN: We conducted a comprehensive search focusing on CS and neutropenia using…
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