USH2A-associated autosomal recessive
nonsyndromatic retinitis pigmentosa is a genetic condition that manifests as vision loss without associated hearing loss.
The dominant E gene ("E") allows the pigment to be deposited normally into the fur, but its mutated recessive
gene ("e") prohibits the depositing of pigment.
Whole-exome sequencing identifies recessive
WDR62 mutations in severe brain malformations.
"This is the deepest dive yet into recessive
mutations in autism -- but we're not done," says Yu, who led the study with first author Ryan Doan, PhD, in Boston Children's Division of Genetics and Genomics.
Hyper IgE syndrome exists in both dominant and recessive
Consequently, there is increased risk of recessive
Hermansky-Pudlak syndrome (HPS) is an autosomal recessive
disorder caused by mutations in one of ten different genes that lead to platelet dense granule deficiency.
It has been involved in both dominant and recessive
congenital myopathies and it plays a central role in excitation-contraction coupling, causing altered excitability and/or changes in calcium homeostasis in muscle cells [11-14].
This study included two small Chinese recessive
deaf families: family 1 (Figure 1(a)) and family 2 (Figure 1(b)).
RP may be inherited in an autosomal dominant (adRP), autosomal recessive
(arRP) or an X-linked recessive
These gender symbols may be empty (normal), having a dot inside (carrier), dark filled (affected), lightly filled (affected for dominant mode and carrier for recessive
mode) to represent the occurrence of a respective phenotype (Fig.
Early efforts to treat the cutaneous manifestations of recessive
dystrophic epidermolysis bullosa (EB) with cellular therapy involved the use of intradermal injections of allogeneic fibroblasts and mesenchymal stromal cells.