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...

Descripción completa

Detalles Bibliográficos
Autores principales: Imran, Syed Ali, Aldahmani, Khaled A, Penney, Lynette, Croul, Sidney E, Clarke, David B, Collier, David M, Iacovazzo, Donato, Korbonits, Márta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2018
Materias:
Error in Diagnosis/Pitfalls and Caveats
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5811772/
https://www.ncbi.nlm.nih.gov/pubmed/29472986
http://dx.doi.org/10.1530/EDM-17-0092

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5811772/
https://www.ncbi.nlm.nih.gov/pubmed/29472986
http://dx.doi.org/10.1530/EDM-17-0092

Ejemplares similares