,46 Furthermore, 44% of patients with LoF variants showed dysmorphic features, which suggest an involvement of NOTCH3 signalling in musculoskeletal development, which is also supported by the dysmorphic features and musculoskeletal abnormalities identified in lateral meningocele syndrome27 and the presence of dysmorphic features in other disorders related to NOTCH signalling, including Alagille syndrome caused by variants in JAG1 and NOTCH2 (MIM 118450 and 610205, respectively).47 This evidence concerns the gene NOTCH2 and Alagille syndrome.