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Penetrance in genetics is the proportion of individuals carrying a particular variant (or allele) of a gene (genotype) that also expresses an associated...

influenced by many factors. The cleft chin is also a classic example of variable penetrance with environmental factors or a modifier gene possibly affecting...

dominant KS with variable penetrance IL17RD, autosomal dominant KS with variable penetrance SEMA3A, autosomal dominant KS with variable penetrance FEZF1, autosomal...

which are alleviated by X-inactivation. Stating that the highly variable penetrance of X-linked traits in females as a result of mechanisms such as skewed...

when referring to X-linked inheritance, stating that the highly variable penetrance of X-linked traits in females as a result of mechanisms such as skewed...

autosomal dominant form of anophthalmia. This form of anophthalmia has variable penetrance and a unique maternal inheritance effect that is rooted in pregnancy...

express an associated phenotype is called penetrance, and this may simply be evidence of variable penetrance. Several research groups have suggested that...

syndrome while other carrying the same mutation may not, referred to as variable penetrance. Mutations in the SCN5A gene seem to have a prognostic value. Several...

Labrador Retriever it is inherited as an autosomal dominant trait with variable penetrance). CPRA occurs in older dogs. Peripheral vision is retained for a...

familial and are inherited in an autosomal dominant fashion with variable penetrance. Research and brain autopsies have implicated both dopaminergic system...

genetics. The inheritance of cleft hand is autosomal dominant and has a variable penetrance of 70%. Cleft hand can be a spontaneous mutation during pregnancy...

moderate to severe symptomatic haemolytic anaemia (this subtype has variable penetrance in some pedigrees) With homozygosity or compound heterozygosity -...

Malignant hyperthermia's inheritance is autosomal dominant with variable penetrance. The defect is typically located on the long arm of chromosome 19...

may show different severities of disease, a phenomenon known as "variable penetrance". As a result, some may remain asymptomatic, with little lifelong...

background. Inheritance of these disorders is autosomal dominant with variable penetrance.[citation needed] Because CAPS is extremely rare and has a broad...

disorder exhibits a highly variable penetrance among family members. Hereditary fibrinogen Aα-Chain amyloidosis shows variable penetrance among family members...

disorder. An autosomal dominant inheritance with age dependency and variable penetrance has been reported, although not all studies support this theory....

disease—in particular aortic and thoracic aneurysms. The disorder has variable penetrance, ranging from severely symptomatic and fatal in early neonatal period...

manifesting it. The 96% penetrance figure comes from only one study. Other studies have observed both incomplete and variable penetrance but without calculating...

patients with the same particular syndrome due to mosaicism, variable expressivity, and penetrance. Many phakomatoses are caused by mutations which alter functioning...