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 ...

Alkaptonuria is a rare genetic disorder that causes black urine due to homogentisic acid buildup, leading to joint pain, ...

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

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 ...

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 ...

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

Autosomal recessive inheritance of the titin muscular dystrophy with myositis (Ttn(mdm/mdm)) mutation leads to a severe early-onset muscular dystrophy and premature death. We have tested the ...

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 ...