STM Article Repository

D’Amico, Adele and Fattori, Fabiana and Nicita, Francesco and Barresi, Sabina and Tasca, Giorgio and Verardo, Margherita and Pizzi, Simone and Moroni, Isabella and De Mitri, Francesca and Frongia, Annalia and Pane, Marika and Mercuri, Eugenio and Tartaglia, Marco and Bertini, Enrico (2020) A Recurrent Pathogenic Variant of INPP5K Underlies Autosomal Recessive Congenital Muscular Dystrophy With Cataracts and Intellectual Disability: Evidence for a Founder Effect in Southern Italy. Frontiers in Genetics, 11. ISSN 1664-8021