1. Abstract Sifrim-Hitz-Weiss syndrome [SIHIWES] is a multi-systemic neurodevelopmental disorder caused by heterozygous missense variants in chromodomain helicase DNA-binding protein 4 [CHD4].
1. Abstract 1.1. Background: Majority of Pheochromocytoma (PCC) and paraganglioma (PGL) cases are benign without malignant potential but genetic assessment is recommended for all PCC/PGL patients, because of the associated with ig hereditary germline mutations which play a vital role in pathogenesis of tumorigenesis and metastasis.
Metastatic Paraganglioma with Fumarate Hydratase Missense Mutation Read More »
1. Summary Carcinoma of pancreas is also called ductal carcinoma, adenocarcinoma, is the most common type of pancreatic cancer, accounting for more than 90 percent of pancreatic cancer diagnoses. This cancer occurs in the lining of the ducts in the pancreas.
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