Greenland sharks are thought to have lifespans that can reach 400 years. Building upon previous work, University of Tokyo-led ...

The highest prevalence of C282Y homozygosity is 1:250, seen in populations of North European ancestry. Low circulating hepcidin due to decreased hepatic expression of hepcidin resulting from ...

Sickle-cell anaemia is the name of a specific form of sickle-cell disease in which there is homozygosity for the mutation that causes HbS. Sickle-cell anaemia is also referred to as "HbSS", "SS ...

Diagnostic tools include standard ontologies for describing dysmorphology and traits, pedigree analysis, disease locus mapping by linkage or homozygosity, karyotyping, genome sequencing and ...

A 17-year-old Egyptian patient presented to the dermatology clinic of Al-Ain Hospital with a complaints of pruritic dry skin and short brittle hair since early infancy. The patient was born to ...