X-chromosome inactivation is an easy assay to further investigate cases without a diagnostic exome sequencing
Chiara Giovenino,Slavica Trajkova,Lisa Pavinato,Simona Cardaropoli,Verdiana Pullano,Silvia Carestiato,Anthony Battaglia,Paola Salmin,Diana Carli,Alessandro Mussa,Silvia De Rubeis,Joseph Buxbaum,Tommaso Pippucci,Paola Dimartino,Alessandro Bruselles,Marco Tartaglia,Haley McConkey,Jennifer Kerkhof, Sadegheh Aghshenas,Bekim Sadikovic,Giorgia Mandrile,Giovanni Battista Ferrero,Alfredo Brusco EUROPEAN JOURNAL OF HUMAN GENETICS（2023）
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