Approach to the patient with a variant of uncertain significance on genetic testing
PJ Newey - Clinical Endocrinology, 2022 - Wiley Online Library
Establishing a genetic diagnosis may lead to major health benefits for the patient and their
wider family, but is dependent on the accurate interpretation of test results. The processes of …
wider family, but is dependent on the accurate interpretation of test results. The processes of …
Editorial for Clinical Endocrinology special issue on “Genetics in Endocrinology”
RT Casey - Clinical Endocrinology, 2022 - search.ebscohost.com
In this special issue of Clinical Endocrinology, we invite leading authors in the field to update
us on the expanding role of genetic testing in the specialty of Diabetes and Endocrinology …
us on the expanding role of genetic testing in the specialty of Diabetes and Endocrinology …
Follow-up study of a Colombian family with a novel MEN1 variant and rare ACTH-producing pancreatic neuroendocrine carcinoma
JC Riaño-Moreno, AM González-Clavijo… - 2023 - researchsquare.com
Purpose This article reports on a 12-year follow-up of a Colombian family with a novel MEN1
gene variant (c. 698dup, p. Met233IlefsTer4), identified through cascade genetic screening …
gene variant (c. 698dup, p. Met233IlefsTer4), identified through cascade genetic screening …