In medical genetics, compound heterozygosity is the condition of having two or more heterogeneous recessive alleles at a particular locus that can cause...

genetic disorders in which the prevalence of compound heterozygosity has been demonstrated. Compound heterozygosity ultimately explains the disease's variability...

LRPPRC gene, located on the small ('p') arm of chromosome 2. Both compound heterozygosity and homozygous mutations have been observed in French Canadian...

are inherited as autosomal recessive traits with homozygosity or compound heterozygosity for two defective TNSALP alleles. The mode of inheritance for childhood...

girl with Fraser syndrome, Slavotinek et al. (2006) identified compound heterozygosity for a deletion (607830.0006) and an insertion (607830.0007) in...

Horst GT, Hoeijmakers JH, Mitchell JR (November 2012). "Effects of compound heterozygosity at the Xpd locus on cancer and ageing in mouse models". DNA Repair...

Congenital Thrombotic Thrombocytopenia Purpura Resulting From Compound Heterozygosity Involving a Novel ADAMTS13 Pathogenic Variant". Journal of Pediatric...

has variable penetrance in some pedigrees) With homozygosity or compound heterozygosity - depending on the exact mutations involved, individuals may lie...

β-thalassemia), while those who have two gene mutations (homozygosity or compound heterozygosity) are diagnosed with β-thalassemia or intermedia. Due to the lack...

KCS2 are thought to be a result of heterozygous mutations, or compound heterozygosity; specifically, it is thought to be caused by the substitution or...