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- W2567627191 abstract "ABSTRACT Pheochromocytoma/paraganglioma (PPGL) have been reported to have germline mutations in more than 15 genes. PPGL diagnosed during childhood have the highest heritability (up to 80%). PPGL associated genes are classified into two clusters; cluster 1 ( VHL, SDHx, EPAS1, PDH1, PDH2, FH, MDH2 ) and cluster 2 ( RET, NF-1, TMEM127, MAX ). Cluster 1 genes associated PPGL are norepinephrine secreting whereas cluster 2 genes associated PPGL are epinephrine secreting. In children with PPGL, VHL mutations are the most common followed by SDHB and SDHD. Bilateral PCC are frequent in patients with VHL mutations whereas extra-adrenal PGL are frequent in SDHx mutations. SDHB related PPGL are frequently malignant. Genetic testing should be performed in all children with PPGL and prioritization of genetic testing based on clinical characteristics (extra-paraganglial manifestations, location and number of PPGL, biochemical phenotype and metastasis) may be cost-effective. How to cite this article Sarathi V, Sabaretnam M, Shah N. Genotype–phenotype Correlation in Children with Pheochromocytoma and Paraganglioma. World J Endoc Surg 2016;8(3):208-211." @default.
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- W2567627191 date "2016-01-01" @default.
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- W2567627191 title "Genotype–phenotype Correlation in Children with Pheochromocytoma and Paraganglioma" @default.
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- W2567627191 doi "https://doi.org/10.5005/jp-journals-10002-1193" @default.
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