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Hypocalcemia in a patient with osteosarcoma and 22q11.2 deletion syndrome.
Mussai FJ, Cunningham LC, Rezvani G, Stratakis CA, Reynolds JC, Nesterova G, Henshaw RM, Levine JE, Helman LJ, Arthur DC, Kim SY. Mussai FJ, et al. Among authors: kim sy. J Pediatr Hematol Oncol. 2008 Aug;30(8):612-7. doi: 10.1097/MPH.0b013e318168f072. J Pediatr Hematol Oncol. 2008. PMID: 18799940 Free PMC article.
Carney triad can be (rarely) associated with germline succinate dehydrogenase defects.
Boikos SA, Xekouki P, Fumagalli E, Faucz FR, Raygada M, Szarek E, Ball E, Kim SY, Miettinen M, Helman LJ, Carney JA, Pacak K, Stratakis CA. Boikos SA, et al. Among authors: kim sy. Eur J Hum Genet. 2016 Apr;24(4):569-73. doi: 10.1038/ejhg.2015.142. Epub 2015 Jul 15. Eur J Hum Genet. 2016. PMID: 26173966 Free PMC article.
Recurrent epimutation of SDHC in gastrointestinal stromal tumors.
Killian JK, Miettinen M, Walker RL, Wang Y, Zhu YJ, Waterfall JJ, Noyes N, Retnakumar P, Yang Z, Smith WI Jr, Killian MS, Lau CC, Pineda M, Walling J, Stevenson H, Smith C, Wang Z, Lasota J, Kim SY, Boikos SA, Helman LJ, Meltzer PS. Killian JK, et al. Among authors: kim sy. Sci Transl Med. 2014 Dec 24;6(268):268ra177. doi: 10.1126/scitranslmed.3009961. Sci Transl Med. 2014. PMID: 25540324 Free PMC article.
Succinate dehydrogenase mutation underlies global epigenomic divergence in gastrointestinal stromal tumor.
Killian JK, Kim SY, Miettinen M, Smith C, Merino M, Tsokos M, Quezado M, Smith WI Jr, Jahromi MS, Xekouki P, Szarek E, Walker RL, Lasota J, Raffeld M, Klotzle B, Wang Z, Jones L, Zhu Y, Wang Y, Waterfall JJ, O'Sullivan MJ, Bibikova M, Pacak K, Stratakis C, Janeway KA, Schiffman JD, Fan JB, Helman L, Meltzer PS. Killian JK, et al. Among authors: kim sy. Cancer Discov. 2013 Jun;3(6):648-57. doi: 10.1158/2159-8290.CD-13-0092. Epub 2013 Apr 2. Cancer Discov. 2013. PMID: 23550148 Free PMC article.
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