Phenotypic variability and risk of malignancy in SDHC-linked paragangliomas: lessons from three unrelated cases with an identical germline mutation (p.Arg133*). [electronic resource]
- The Journal of clinical endocrinology and metabolism Mar 2014
- E489-96 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1945-7197
10.1210/jc.2013-3486 doi
Arginine--genetics Female Genetic Heterogeneity Genetic Predisposition to Disease Germ-Line Mutation Glomus Jugulare Tumor--genetics Head and Neck Neoplasms--genetics Heart Neoplasms--genetics Humans Loss of Heterozygosity Lumbar Vertebrae Male Membrane Proteins--genetics Middle Aged Paraganglioma--genetics Phenotype Risk Factors Spinal Neoplasms--genetics