A person with blonde hair, however, must be homozygous for the hair color gene, because the blonde hair allele is recessive. This means there need to be two copies of the blonde hair allele for that trait to be expressed. The Greek roothomo- means "same" and the prefixhetero-means "oth...
(2008). Homozygous and Heterozygous Reeler Mouse Mutants. In: Fatemi, S.H. (eds) Reelin Glycoprotein. Springer, New York, NY. https://doi.org/10.1007/978-0-387-76761-1_20 Download citation .RIS .ENW .BIB DOIhttps://doi.org/10.1007/978-0-387-76761-1_20 Publisher NameSpringer, New ...
Phenotype in homozygous and heterozygous carriers of BEST1 mutations in autosomal recessive BestrophinopathyGENETIC mutationEYE diseasesPurpose: Autosomal recessive Bestrophinopathy (ARB) is part of the diverse spectrum of retinal diseases caused by mutations in the BEST1 gene. We report the phenotype...
Novel homozygous, heterozygous and hemizygous FRMD7 gene mutations segregated in the same consanguineous family with congenital X-linked nystagmus. Ratnamala;U;Deutsch;S.Novel homozygous,heterozygous and hemizygous FRMD7 gene mutations segregated in the same consanguineous family with congenital X-linked ...
Jervell and Lange-Nielsen syndrome (JLNS) isa recessive model of long QT syndrome which might also be related to possible hearing loss. Although the syndrome has been demonstrated to be originated from homozygous or compound heterozygous mutations in either the KCNQ1 or KCNE1 genes, additional mut...
Recessive cardiac phenotypes in induced pluripotent stem cell models of Jervell and Lange-Nielsen syndrome: Disease mechanisms and pharmacological rescue In contrast to the autosomal dominant forms of long QT syndrome, JLNS is a recessive trait, resulting from homozygous (or compound heterozygous) mutati...
Advanced case of sitosterolemia with a novel homozygous mutation. Curr Pediatr Res. 2018;22(1):4–8. Google Scholar Brown JM, Yu L. Opposing gatekeepers of apical sterol transport: Nieman-Pick C1-like 1 (NPC1L1) and ATP-binding cassette transporters G5 and G8 (ABCG5/ABCG8). ...
A homozygous loss-of-function variant in FOXP4 was previously reported in a child with developmental delays, laryngeal hypoplasia, feeding difficulties, and a ventricular septal defect, suggesting autosomal recessive inheritance.11 However, several different heterozygous de novo FOXP4 variants of unknown ...
Mom is homozygous recessive, and dad is homozygous dominant. What is the percent chance of them having a blue-eyed baby? If a man with A blood type , one of whose parents had blood type O, marries a woman with AB blood type , what ...
[48], but 3/4th of the patients with biallelic mutations were homozygous, with mutations in identical-by-descent regions in consanguineous families [48]. Thus, the prevalence of biallelic mutations in recessive genes in populations that are not inbred, such as the two cohorts studied here, ...