Background Monogenic disorders are a major cause of fetal structural anomalies. Most genetic diagnoses involve de novo, biallelic or X linked variants; however, inherited variants in autosomal ...
Disparate Rates of Germline Variants in Cancer Predisposition Genes in African American/Black Compared With Non-Hispanic White Individuals Between 2015 and 2022 There has been a revolution in genomic ...
Data from this Australian study showed a higher prevalence of intracranial aneurysms (ICAs) in patients with ADPKD compared with the general population. Many patients in the study had no known risk ...
Panelists discuss how exciting ongoing research efforts are expanding similar gene therapy technologies to other muscular dystrophies like FSHD and myotonic dystrophy, using strategies to knock down ...
Retinitis pigmentosa (RP) is an eye condition that can be genetic. In this way, people usually need to inherit two copies of a genetic variation that causes RP, one coming from each parent. RP may ...
Branchiootorenal spectrum disorder (BORSD) is a group of rare autosomal dominant conditions. It is characterized by malformations of the outer, middle, and inner ear associated with hearing impairment ...
Cystic fibrosis (CF) is an autosomal recessive condition. This means that a person will have CF only if they receive the affected gene from both parents at conception. Share on Pinterest Dalibor ...
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