Open AccessGenetic profile of Indian pheochromocytoma and paraganglioma patients – A single institutional study
Author(s) -
Gaurav Agarwal,
Sendhil Rajan,
Ramya C Valiveru,
Sonam Tulsyan,
Vinita Agrawal,
Balraj Mittal,
Ghazala Zaidi,
Sabaretnam Mayilvaganan,
Anjali Mishra,
Amit Agarwal,
Saroj Kanta Mishra,
Eesh Bhatia
Publication year - 2019
Publication title -
indian journal of endocrinology and metabolism
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.456
H-Index - 28
eISSN - 2230-9500
pISSN - 2230-8210
DOI - 10.4103/ijem.ijem_163_19
Subject(s) - sdhb , sdhd , multiplex ligation dependent probe amplification , medicine , paraganglioma , pheochromocytoma , neurofibromatosis , mutation , exact test , pathology , genetic testing , oncology , genotype , pathological , bioinformatics , genetics , germline mutation , biology , gene , exon
Pheochromocytomas (PCCs) and Paragangliomas (PGL) are rare catecholamine producing tumors that may present in sporadic or familial settings. Despite vast strides in understanding of PCC/PGL genetics in the last two decades, there is a dearth of information from India. The aim here is to study the prevalence of genetic mutations in Indian PCC/PGL patients.