-
Penetrance in
genetics is the
proportion of
individuals carrying a
particular variant (or allele) of a gene (genotype) that also
expresses an ****ociated...
- Rare
genetic variants show more
relevant clinical significance as
their penetrance (the
chance of
developing the disorder)
tends to be much higher. However...
- It can
arise from
genetic or
environmental factors, such as
incomplete penetrance.
Disease tolerance is
different as it is the
ability of a host to limit...
-
exact incidence of HCP is
difficult to determine, due to its
reduced penetrance. Clinically,
patients affected with HCP
present similarly to
those with...
-
hypothesized to be a
result of
autosomal dominant inheritance with
incomplete penetrance and
variable expressivity,
which contributes to the
complexity involved...
-
appears to be
inherited in an
autosomal dominant fashion with high
genetic penetrance but
variable expressivity in females; this
means that each
child has a...
-
complete penetrance and will
therefore almost always display symptoms of FXS,
while females with a full
mutation generally display a
penetrance of about...
-
modify the
mechanism of HD.
About 36 to 39
repeats result in a reduced-
penetrance form of the disease, with a much
later onset and
slower progression of...
- gene, and are
inherited in an
autosomal dominant manner, with
incomplete penetrance.
Glomus tumors are
usually solitary and
small lesions. The vast majority...
- blood-brain barrier.
Compared to gantenerumab, it has 50
times as much
penetrance into the brain. Grimm, Hans Peter; Schumacher, Vanessa; Schäfer, Martin;...
