Lynch syndrome genetics and clinical implications.
Sign Up to like & getrecommendations! Published in 2023 at "Gastroenterology"
DOI: 10.1053/j.gastro.2022.08.058
Abstract: Lynch syndrome (LS) is one of the most prevalent hereditary cancer syndromes in man and accounts for some 3% of unselected patients with colorectal or endometrial cancer and 10-15% of those with DNA mismatch repair… read more here.
Keywords: genetics clinical; clinical implications; syndrome genetics; lynch syndrome ... See more keywords
Brugada syndrome genetics is associated with phenotype severity
Sign Up to like & getrecommendations! Published in 2020 at "European Heart Journal"
DOI: 10.1093/eurheartj/ehaa942
Abstract: Abstract Aims Brugada syndrome (BrS) is associated with an increased risk of sudden cardiac death due to ventricular tachycardia/fibrillation (VT/VF) in young, otherwise healthy individuals. Despite SCN5A being the most commonly known mutated gene to… read more here.
Keywords: epicardial area; genetics associated; genetics; brugada syndrome ... See more keywords
IPEX Syndrome: Genetics and Treatment Options
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DOI: 10.3390/genes12030323
Abstract: (1) Background: IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked) syndrome characterizes a complex autoimmune reaction beginning in the perinatal period, caused by a dysfunction of the transcription factor forkhead box P3 (FOXP3). (2) Objectives: Studies have… read more here.
Keywords: genetics; treatment options; genetics treatment; ipex syndrome ... See more keywords