What is it about?
This study showed for the first time that male patients with X-LAG syndrome do not have a constitutional duplication involving the GPR101 gene, rather, they demonstrate mosaicism with as low as 15% of cells duplicated. This, along with McCune Albright syndrome, shows that somatic mosaicism is an important pituitary tumorigenic mechanism.
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Why is it important?
These cases can be identified on screening using ddPCR or arrayCGH, even when duplications affect only about 15% of cells.
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This page is a summary of: Somatic mosaicism underlies X-linked acrogigantism syndrome in sporadic male subjects, Endocrine Related Cancer, March 2016, Bioscientifica,
DOI: 10.1530/erc-16-0082.
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