论文信息 - 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 - 字舞流文

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

E. Bertini | M. Pane | E. Mercuri | A. D’Amico | M. Tartaglia | G. Tasca | S. Barresi | F. Nicita | I. Moroni | S. Pizzi | F. Fattori | M. Verardo | A. Frongia | Francesca De Mitri