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AIP mutation in pituitary adenomas in the 18th century and today.

Abstract:

Gigantism results when a growth hormone-secreting pituitary adenoma is present before epiphyseal fusion. In 1909, when Harvey Cushing examined the skeleton of an Irish patient who lived from 1761 to 1783, he noted an enlarged pituitary fossa. We extracted DNA from the patient's teeth and identified a germline mutation in the aryl hydrocarbon-interacting protein gene (AIP). Four contemporary Northern Irish families who presented with gigantism, acromegaly, or prolactinoma have the same mutatio...

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Publisher copy:
10.1056/nejmoa1008020

Authors


Chahal, HS More by this author
Unterländer, M More by this author
Balding, DJ More by this author
Thomas, MG More by this author
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Journal:
The New England journal of medicine
Volume:
364
Issue:
1
Pages:
43-50
Publication date:
2011-01-05
DOI:
EISSN:
1533-4406
ISSN:
0028-4793
URN:
uuid:240c1810-a5c5-4198-912c-208e9fce3ec2
Source identifiers:
138440
Local pid:
pubs:138440

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