Bickmann, Julia K

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