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Article

Chromatin conformation capture in the clinic: 4C-seq/HiC distinguishes pathogenic from neutral duplications at the GPR101 locus

13 Sept 2024

Abstract excerpt

BACKGROUND: X-linked acrogigantism (X-LAG; MIM: 300942) is a severe form of pituitary gigantism caused by chromosome Xq26.3 duplications involving GPR101. X-LAG-associated duplications disrupt the integrity of the topologically associating domain (TAD) containing GPR101 and lead to the formation of a neo-TAD that drives pituitary GPR101 misexpression and gigantism. As X-LAG is fully penetrant and heritable,...

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Share to Genomic variations and chromosomal abnormalities
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PMID: 39272130
DOI: 10.1186/s13073-024-01378-5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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