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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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| Publicado no: | Endocrinol Diabetes Metab Case Rep |
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| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Bioscientifica Ltd
2018
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| Assuntos: | |
| Acesso em linha: | 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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