3.2 Participants In total, 715 individuals with a molecularly confirmed genetic diagnosis were included in this study, comprising individuals with a germline mutation in epigenetic enzymes from the writers category according to Fahrner and Bjornsson 2019 (59), KMT2A (Wiedemann-Steiner syndrome, n=56) (6069), KMT2B (Childhood-onset dystonia 28 (DYT28), n=54) (70, 71), KMT2C (KMT2C-associated syndrome, n=82) (7274), KMT2D (Kabuki syndrome type 1, n=197) (7586), KMT2E (ODonnell-Luria-Rodan (ODLURO) syndrome, n=39) (87, 88), ASH1-like (ASH1L) histone methyltransferase mutations (intellectual disability autosomal dominant (MRAD) 52 syndrome, n=5) (89), Nuclear receptor-binding SET domain protein (NSD) NSD1 (Sotos syndrome, n=3) (90, 91), NSD2 (Wolf-Hirschhorn syndrome, n=39) (9299), PRDI-BF1 and RIZ domain-containing protein (PRDM) PRDM12 (Hereditary sensory and autonomic neuropathy, n=22) (100, 101), SET domain-containing protein (SETD) SETD1A (SETD1A-syndrome, n=16) (102, 103), SETD2 (LuscanLumish syndrome/Sotos-like syndrome, n=4) (104, 105), SETD5 (MRAD 23 syndrome, n=2) (106, 107), KMT5B mutations (MRAD 51 syndrome, n=7) (89)

Finally, an aliquot of each sample was transferred on a silicon wafer, dried at the critical point and sputter coated with gold (8 nm) before imaging
Your provider may use imaging tests to take pictures of your knee and the tissue around it, including: Your provider will suggest treatments to help your patellar tendon heal and manage the symptoms youre experiencing
Together, these approaches provide a more comprehensive strategy for maintaining vitality