A novel succinate dehydrogenase subunit B germline variant associated with head and neck paraganglioma in a Dutch kindred: A family-based study.

B de VosJ A RijkenM A AdankA W J HoksbergenJ P BayleyC R LeemansE F Hensen

Published in: Clinical otolaryngology : official journal of ENT-UK ; official journal of Netherlands Society for Oto-Rhino-Laryngology & Cervico-Facial Surgery (2018)

Deletion of exon 1-3 in the SDHB gene is a novel germline variant associated with the formation of hereditary HNPGL.

Keyphrases

dna repair
genome wide
copy number
dna damage
gene expression
genome wide identification
oxidative stress