Congenital heart defect (CHD) is a rare and complicated disease with a high mortality rate. Its etiology remains unclear and includes many aspects. DNA methylation has been indicated to be involved in
Cardio-facio-cutaneous syndrome (CFCS) belongs to the group of RASopathies, clinical disorders defined by disruptions in the RAS/MAPK signaling pathway. It is caused by heterozygous gain-of-function g
EAST syndrome is an autosomal recessive disorder characterized by the tetrad of Epilepsy, Ataxia, Sensorineural deafness, and (a renal salt-wasting) Tubulopathy.
