Purpose: Alagille syndrome is an autosomal dominant condition characterized by a paucity of interlobular bile ducts and chronic cholestasis, cardiac disease, skeletal abnormalities, ocular ...
Autosomal recessive polycystic kidney disease (ARPKD) is associated with significant mortality and morbidity, and currently, there are no disease-specific treatments available for ARPKD patients. One ...
In a recent study published in the Journal of Experimental Medicine, researchers identified that individuals with a deficiency of myeloid differentiation primary response 88 (MyD88) and interleukin-1 ...
Sickle cell anemia is an inherited condition that follows an autosomal recessive inheritance pattern. Even if you don’t have sickle cell anemia, you could be a carrier of the gene for it. Sickle cell ...
Polycystic kidney disease (PKD) exists in two variants, which are inherited in different ways, named autosomal dominant PKD (ADPKD) as opposed to autosomal recessive (ARPKD). Apart from this obvious ...
Cystic fibrosis (CF) is an autosomal recessive genetic disorder caused by mutations in the CF transmembrane conductance regulator (CFTR) gene. Researchers from Sorbonne University and Hôpital ...
Diseases or health problems are not only transferred through infections and inflammation, but also through your genes. There are some disorders that you already have it in your genes and you get it ...
Retinitis pigmentosa (RP) is an eye condition that can be genetic. In this way, people usually need to inherit two copies of a genetic variation that causes RP, one coming from each parent. RP may ...
Researchers have conducted what they say is the largest and most diverse study to date on how recessive genetic changes contribute to developmental disorders. The team, headed by researchers at the ...
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