COL2A1 and Neurofibrillary tangles: Notably, of the 29 children with nFTS with dysmorphic features resembling connective tissue disorders, 7 had VUSs of genes known to be related to connective tissue (BMP4, MATN3, COL2A1, COL11A1, COL1A1, COL1A2, and COL6A3).