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SRS is classified as a rare syndrome with an estimated incidence of 1 in 30.000/100.000 [Christoforidis A. et al., 2005]. It's a clinically and genetically heterogeneous disorder that presents a very wide phenotypic range. Due to its heterogeneity, SRS diagnosis is difficult, and the disease is probably underdiagnosed [Eggermann T. et al., 2009].
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Paglia et al. (2024) studied this question.
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