Pierpont syndrome associated with the p.Tyr446Cys missense mutation in TBL1XR1. Read more about Pierpont syndrome associated with the p.Tyr446Cys missense mutation in TBL1XR1.
Novel SMC1A frameshift mutations in children with developmental delay and epilepsy. Read more about Novel SMC1A frameshift mutations in children with developmental delay and epilepsy.