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Article

Genotype-phenotype correlation in paediatric pheochromocytoma and paraganglioma: a single centre experience from India.

Journal of pediatric endocrinology & metabolism : JPEM - 1 May 2017

Khadilkar Kranti, Sarathi Vijaya, Kasaliwal Rajeev, Pandit Reshma, Goroshi Manjunath, Shivane Vyankatesh, Lila Anurag, Bandgar Tushar, Shah Nalini S

Abstract excerpt

BACKGROUND: 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. METHODS: A total of 121 consecutive, unrelated, index PCC/PGL patients underwent genetic testing for five PCC/PGL susceptibility genes (RET, VHL,...

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Source

Identifiers

PMID: 28432847
DOI: 10.1515/jpem-2016-0375

Genes

VHL
SDHB
SDHD
RET
SDHC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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