Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disorder characterized by a near-total absence of ...

Recessive traits may skip generations and will affect both genders equally. An example of an autosomal recessive condition is cystic fibrosis. Cystic fibrosis close cystic fibrosisA disorder that ...

Sickle Cell disease is an autosomal recessive disorder that causes anemia, joint pain, a swollen spleen, and frequent, severe infections. It illustrates balanced polymorphism because carriers are ...

Discover Sanfilippo Syndrome a rare genetic disorder affecting childrens development Learn about its symptoms treatment ...

Belite Bio is a biotech firm specializing in innovative therapies for retinal degenerative eye diseases with high unmet needs ...

Autosomal recessive osteopetrosis was diagnosed in patient 3 at 2.5 months of age, at which time hepatosplenomegaly and optic atrophy were noted. He survives following a matched related BMT with ...

Autosomal dominant single-gene diseases occur ... Therefore, females with an X chromosome-linked recessive disease inherit one copy of the mutant gene from an affected father and the second ...

Jaguar Health’s Napo Pharmaceuticals and Napo Therapeutics announced that the first patient has been dosed in the independent investigator-initiated POC trial of crofelemer, Jag ...