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 ...

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 ...

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 ...

Background Sickle cell trait (SCT) is considered a benign heterozygous carrier state (both normal haemoglobin and abnormal HbS) compatible with elite level sport, whereas the autosomal recessive state ...