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Article

Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study

1 Jun 2016

Abstract excerpt

Non-syndromic pituitary gigantism can result from AIP mutations or the recently identified Xq26.3 microduplication causing X-linked acrogigantism (XLAG). Within Xq26.3, GPR101 is believed to be the causative gene, and the c.924G > C (p.E308D) variant in this orphan G protein-coupled receptor has been suggested to play a role in the pathogenesis of acromegaly.We studied 153 patients (58 females and 95 males) with...

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PMID: 27245663
DOI: 10.1186/s40478-016-0328-1

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