Data related to article "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"

dataset contains clinical data on a patient included in the study referred to Fondazione Besta

本数据集收录了纳入贝斯塔基金会（Fondazione Besta）相关研究的患者的临床数据。