{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,10]],"date-time":"2026-04-10T10:12:24Z","timestamp":1775815944500,"version":"3.50.1"},"reference-count":50,"publisher":"Walter de Gruyter GmbH","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2017,1,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background:<\/jats:title><jats:p>Data on genotype-phenotype correlation in children is limited. Hence, we studied the prevalence of germline mutations and genotype-phenotype correlation in children with pheochromocytoma (PCC)\/paraganglioma (PGL) and compared it with adult PCC\/PGL cohort.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods:<\/jats:title><jats:p>A total of 121 consecutive, unrelated, index PCC\/PGL patients underwent genetic testing for five PCC\/PGL susceptibility genes (<\/jats:p><\/jats:sec><jats:sec><jats:title>Results:<\/jats:title><jats:p>Thirty patients (12 boys, 18 girls) presented at \u226420 years of age (mean age of 15.9\u00b13.8 years). Children were more frequently symptomatic and more frequently had bilateral PCC than adults. Fourteen (46.7%) PCC\/PGL children had germline mutations (<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions:<\/jats:title><jats:p>All PCC\/PGL children should be screened for germline mutations with first priority for<\/jats:p><\/jats:sec>","DOI":"10.1515\/jpem-2016-0375","type":"journal-article","created":{"date-parts":[[2017,4,22]],"date-time":"2017-04-22T10:01:29Z","timestamp":1492855289000},"source":"Crossref","is-referenced-by-count":7,"title":["Genotype-phenotype correlation in paediatric pheochromocytoma and paraganglioma: a single centre experience from India"],"prefix":"10.1515","volume":"30","author":[{"given":"Kranti","family":"Khadilkar","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vijaya","family":"Sarathi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rajeev","family":"Kasaliwal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Reshma","family":"Pandit","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manjunath","family":"Goroshi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vyankatesh","family":"Shivane","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anurag","family":"Lila","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tushar","family":"Bandgar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nalini S.","family":"Shah","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","reference":[{"key":"ref31","first-page":"943","article-title":"Update on pediatric pheochromocytoma","volume":"24","year":"2009","journal-title":"Pediatr"},{"key":"ref411","doi-asserted-by":"crossref","first-page":"R9","DOI":"10.1530\/EJE-15-0549","article-title":"Management of endocrine disease: outcome of adrenal sparing surgery in heritable pheochromocytoma","volume":"174","year":"2016","journal-title":"Eur J Endocrinol"},{"key":"ref341","doi-asserted-by":"crossref","first-page":"1541","DOI":"10.1210\/jc.2008-2419","article-title":"Italian pheochromocytoma\/paraganglioma Network. Clinically guided genetic screening in a large cohort of italian patients with pheochromocytomas and\/or functional or non functional paragangliomas","volume":"94","year":"2009","journal-title":"J Clin Endocrinol Metab"},{"key":"ref361","doi-asserted-by":"crossref","first-page":"L1","DOI":"10.1530\/ERC-12-0339","article-title":"Genetics of pheochromocytoma and paraganglioma in Spanish pediatric patients","volume":"20","year":"2013","journal-title":"Endocr Relat Cancer"},{"key":"ref271","doi-asserted-by":"crossref","first-page":"244","DOI":"10.1111\/j.1651-2227.1992.tb12213.x","article-title":"A single pediatric center experience with 1025 children with hypertension","volume":"81","year":"1992","journal-title":"Acta Paediatr"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"244","DOI":"10.1111\/j.1651-2227.1992.tb12213.x","article-title":"A single pediatric center experience with 1025 children with hypertension","volume":"81","year":"1992","journal-title":"Acta Paediatr"},{"key":"ref381","doi-asserted-by":"crossref","first-page":"4757","DOI":"10.1210\/jc.2009-1248","article-title":"Comparison of 18F-fluoro-L-DOPA, 18F-fluoro-deoxyglucose, and 18F-fluorodopamine PET and 123I-MIBG scintigraphy in the localization of pheochromocytoma and paraganglioma","volume":"94","year":"2009","journal-title":"J Clin Endocrinol Metab"},{"key":"ref451","doi-asserted-by":"crossref","first-page":"166","DOI":"10.1196\/annals.1353.017","article-title":"Frequent genetic changes in childhood pheochromocytomas","volume":"1073","year":"2006","journal-title":"Ann N Y Acad Sci"},{"key":"ref261","first-page":"595","article-title":"Pediatric phaeochromocytoma: a 36-year review","volume":"12","year":"1997","journal-title":"Pediatr Surg Int"},{"key":"ref21","doi-asserted-by":"crossref","first-page":"1109","DOI":"10.1542\/peds.2005-2299","article-title":"Phaeochromocytoma and paraganglioma in children: a review of medical and surgical management at a tertiary care centre","volume":"118","year":"2006","journal-title":"Pediatrics"},{"key":"ref241","doi-asserted-by":"crossref","first-page":"978","DOI":"10.1001\/archsurg.1990.01410200036004","article-title":"Current diagnosis and treatment of pheochromocytoma in children. 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