Racial Differences in the use of Genetic Testing among Patients with Hypertrophic Cardiomyopathy
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Cardiac Failure"
DOI: 10.1016/j.cardfail.2019.07.394
Abstract: Background Hypertrophic cardiomyopathy (HCM), the prototypical cardiovascular genetic disease, is caused by dominantly inherited mutations in genes encoding sarcomeric proteins. Genetic testing is recommended for individuals with HCM, the results of which promote prevention of… read more here.
Keywords: cardiovascular genetics; genetic testing; genetics clinic; genetics ... See more keywords
Clinical implications of mosaicism: a 10-year retrospective review of 83 families in a university-affiliated genetics clinic
Sign Up to like & getrecommendations! Published in 2022 at "Clinical Dysmorphology"
DOI: 10.1097/mcd.0000000000000418
Abstract: Mosaicism refers to the coexistence of two or more genetically distinct cell populations in an individual from a single fertilized egg. We performed a retrospective analysis of all patients diagnosed with mosaic disorders between 2010… read more here.
Keywords: university affiliated; genetics clinic; mosaicism; affiliated genetics ... See more keywords
Diagnostic outcomes from a combined Pediatric Dermatology‐Genetics clinic
Sign Up to like & getrecommendations! Published in 2022 at "Pediatric Dermatology"
DOI: 10.1111/pde.15035
Abstract: Multispecialty clinics can be exceedingly helpful for diagnostically challenging and clinically complicated patients. This study highlights the diagnostic outcomes of the multispecialty Pediatric Dermatology‐Genetics clinic at Children's Mercy‐Kansas City over a 5‐year period. read more here.
Keywords: pediatric dermatology; dermatology; dermatology genetics; genetics clinic ... See more keywords
Design and Outcomes of a Novel Multidisciplinary Ophthalmic Genetics Clinic
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DOI: 10.3390/genes14030726
Abstract: The Multidisciplinary Ophthalmic Genetics Clinic (MOGC) at the University of Michigan Kellogg Eye Center aims to provide medical and ophthalmic genetics care to patients with inherited ocular conditions. We have developed a clinical and referral… read more here.
Keywords: design outcomes; genetic testing; multidisciplinary ophthalmic; genetics clinic ... See more keywords