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14q22.3 duplication

17
Feb

14q22.3 duplication including OTX2

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14q22.3 duplication including OTX2 in a girl with medulloblastoma   The gene OTX2 is located on chromosome 14q22.3 and is essential for the normal developmental of the brain. Individuals with heterozygous loss of function of OTX2 through pathogenic variants in OTX2 or 14q22.3 deletions have been reported in patients with...
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