Our hypothesis is that some individuals have one faulty copy of the gene resulting in an abnormal BHLHE22 protein. Some have two faulty copies, resulting in no protein. This protein is important in proper central nervous system development.
BHLHE22BHLHE22Our hypothesis is that some individuals have one faulty copy of the gene resulting in an abnormal BHLHE22 protein. Some have two faulty copies, resulting in no protein. This protein is important in proper central nervous system development.