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M. Pomponi

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Case report Open access Aug 2026

A Clinical Genetics-Driven Dual Diagnosis of Prader–Willi Syndrome Due to Mosaic Maternal UPD(15) and NOTCH3-Related CADASIL

It is shown that mosaicism can lead to a missed diagnosis when the genetic investigation is limited to peripheral blood, and the pivotal role of clinical genetics in assessing the precise diagnosis in rare diseases is highlighted.

F. Bogliardi, Pino D’Ambrosio, Giorgia Quattromini et al. · 0 citations

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