DISRUPTION OF PHF21A CAUSES SYNDROMIC INTELLECTUAL DISABILITY WITH CRANIOFACIAL ANOMALIES, EPILEPSY, HYPOTONIA, AND NEUROBEHAVIORAL PROBLEMS INCLUDING AUTISM

Abstract Background PHF21A has been associated with intellectual disability and craniofacial anomalies based on its deletion in the Potocki-Shaffer syndrome region at 11p11.2 and its disruption in three patients with balanced translocations.In addition, three patients with de novo truncating mutations in PHF21A were reported recently.Here, we analy

Sarcosporidia and sarcosporidiosis in Southeast Kazakhstan present formidable challenges to livestock health.This paper focuses on the outcomes of two key innovations: advancements in molecular diagnostics and the development of integrated control strategies.In the realm of diagnostics, the implementation of Polymerase Chain Lice Reaction (PCR) tec

To deal with the problem of the lug fractures of hinge beam caused by the fatigue and overload during the operation of the cubic press, the analysis methods of finite element are applied to the analysis of the internal stress distributions of the hinge beam.The simulation results show that the internal stress of the hinge Flower beam mainly concent