Articles with "genetic syndrome" as a keyword



Familial Duodenal Somatostatinomatosis Not Associated With a Known Genetic Syndrome.

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Published in 2022 at "Pancreas"

DOI: 10.1097/mpa.0000000000002126

Abstract: ABSTRACT We report a father and his daughter who both had multiple somatostatinomas in the duodenal bulb without a known syndrome. The father, at age 68 years, was incidentally found to harbor 4 approximately 1.5-cm… read more here.

Keywords: familial duodenal; daughter; genetic syndrome; syndrome ... See more keywords

Abstract 4367601: Navigating the Future: Examining Advanced Directive Trends in Adults with Congenital Heart Disease

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Published in 2025 at "Circulation"

DOI: 10.1161/circ.152.suppl_3.4367601

Abstract: Background: Advanced directives are important tools for ensuring patient autonomy in healthcare decision-making, yet little is known about their prevalence among adults with congenital heart disease (ACHD). Objective: To determine the prevalence of advanced directives… read more here.

Keywords: age; disease; genetic syndrome; congenital heart ... See more keywords

Efficiency of Computer-Aided Facial Phenotyping (DeepGestalt) in Individuals With and Without a Genetic Syndrome: Diagnostic Accuracy Study

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Published in 2020 at "Journal of Medical Internet Research"

DOI: 10.2196/19263

Abstract: Background Collectively, an estimated 5% of the population have a genetic disease. Many of them feature characteristics that can be detected by facial phenotyping. Face2Gene CLINIC is an online app for facial phenotyping of patients… read more here.

Keywords: facial phenotyping; without genetic; deepgestalt; genetic syndrome ... See more keywords