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We order vitamin B12 and folate testing when a person with Down syndrome we are evaluating has symptoms described above, has a lab abnormality for which follow up testing of vitamin B12 and/or folate is indicated, or the person has a condition in which deficiency is common (e.g., celiac disease)
Wu B, Chen Y, Chen Y, Xie X, Liang H, Peng F, et al
Preclinical studies have suggested potential biomarkers such as circulating free IGF levels, mutations of p53, BRCA1, KRAS and BRAF, IRS2 copy number gain, InsR/IGF-IR overexpression, InsR/IGF-IR pathway activation, PTEN loss, CD24, mesenchymal markers, -catenin/TCF activity, FUS-DDIT3 fusion, and ERG [192,193,194,195,196,197,198,199,200,201]
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