-
alleles from parents.
Autosomal genetic disorders which exhibit Mendelian inheritance can be
inherited either in an
autosomal dominant or
recessive fashion...
- who are
carriers of a
faulty gene (
autosomal recessive inheritance) or from a
parent with the
disorder (
autosomal dominant inheritance). When the genetic...
- of the genes,
either new (de novo) or inherited. The
terms autosomal dominant or
autosomal recessive are used to
describe gene
variants on non-**** chromosomes...
- RLBP1 (
autosomal recessive,
Bothnia type RP) RP1 (
autosomal dominant, RP1) RHO (
autosomal dominant, RP4) RDS (
autosomal dominant, RP7) PRPF8 (
autosomal dominant...
- a
contrived acronym for
Autosomal-dominant
Compelling Helio-Ophthalmic Outburst) is an
inherited and
congenital autosomal dominant reflex condition...
-
CADASIL or
CADASIL syndrome,
involving cerebral autosomal dominant arteriopathy with
subcortical infarcts and leukoencephalopathy, is the most common...
-
sometimes characterised as "
autosomal trisomies" (trisomies of the non-**** chromosomes) and "****-chromosome trisomies."
Autosomal trisomies are described...
-
Mutations in the CLCN7 gene
cause most
cases of
autosomal dominant osteopetrosis, 10-15% of
cases of
autosomal recessive osteopetrosis (the most
severe form)...
-
underlying genetic cause and mode of
inheritance (e.g., dominant, recessive,
autosomal or X-linked).
Ichthyosis comes from Gr**** ἰχθύς (ichthys) 'fish', since...
-
having their own
pathology and
genetic cause:
autosomal dominant polycystic kidney disease (ADPKD) and
autosomal recessive polycystic kidney disease (ARPKD)...
