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Familial dysautonomia (FD; also known as "Riley-Day syndrome"), an Ashkenazi Jewish disorder, is the best known and most frequent… Expand The defective gene DYS, which is responsible for familial dysautonomia (FD) and has been mapped to a 0.5-cM region on chromosome… Expand Reduced penetrance in genetic disorders may be either dependent or independent of the genetic background of gene carriers… Expand Tangier disease (TD) is an autosomal recessive disorder of lipid metabolism. It is characterized by absence of plasma high… Expand Genes have a major role in the control of high-density lipoprotein (HDL) cholesterol (HDL-C) levels. Here we have identified two… Expand Tangier disease (TD) was first discovered nearly 40 years ago in two siblings living on Tangier Island. This autosomal co… Expand Fukuyama-type congenital muscular dystrophy (FCMD), one of the most common autosomal recessive disorders in Japan (incidence is 0… Expand Neuronal migration disorders are a group of malformations of the brain which primarily affect development of the cerebral cortex… Expand Gorlin syndrome is an autosomal dominant disorder that predisposes to basal cell carcinomas of the skin, ovarian fibromas, and… Expand A cytogenetic study of extraskeletal myxoid chondrosarcoma cells revealed a complex t(9;22;15)(q31;q12.2;q25) as a primary… Expand