Unusual AIP mutation and phenocopy in the family of a young patient with acromegalic gigantism

Early-onset acromegaly causing gigantism is often associated with aryl-hydrocarbon-interacting receptor protein (AIP) mutation, especially if there is a positive family history. A15y male presented with tiredness and visual problems. He was 201 cm tall with a span of 217 cm. He had typical facial fe...

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Vydáno v:Endocrinol Diabetes Metab Case Rep
Hlavní autoři: Imran, Syed Ali, Aldahmani, Khaled A, Penney, Lynette, Croul, Sidney E, Clarke, David B, Collier, David M, Iacovazzo, Donato, Korbonits, Márta
Médium: Artigo
Jazyk:Inglês
Vydáno: Bioscientifica Ltd 2018
Témata:
Error in Diagnosis/Pitfalls and Caveats
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5811772/
https://ncbi.nlm.nih.gov/pubmed/29472986
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1530/EDM-17-0092
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