Article
Portrait of a Spectrum: Clinical and Genetic Characterization of a Large Cohort of Chromatinopathies-30 Years' Experience From a Third Level Center.
Clinical genetics - 1 Apr 2026
Marchetti Giulia Bruna, Rosina Erica, Meossi Camilla, Mura Michela, Pezzani Lidia, Selicorni Angelo, Bedeschi Maria Francesca, Tenconi Romano, Agostoni Carlo, Finelli Palma, De Matteis Sara, Di Fede Elisabetta, Massa Valentina, Pezzoli Laura, Gervasini Cristina, Iascone Maria, Milani Donatella
Abstract excerpt
Chromatinopathies (CPs) are an expanding group of rare genetic disorders affecting epigenetic machinery. Besides an intricate genotypic spectrum, these conditions share overlapping phenotypes characterized by neurocognitive impairment, growth defects and distinctive, but often convergent, facial features. Although individually rare, the landscape of CPs is increasingly growing and represents an emerging and...
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