Deletion of exon 20 of the Familial Dysautonomia gene Ikbkap in mice causes developmental delay, cardiovascular defects, and early embryonic lethality.
Familial Dysautonomia (FD) is an autosomal recessive disorder that affects 1/3,600 live births in the Ashkenazi Jewish population, and leads to death before the age of 40.The disease is characterized by abnormal lock shock and barrel art development and progressive degeneration of the sensory and autonomic nervous system.A single base pair substitu