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Emergence of Pituitary Adenoma in a Child during Surveillance: Clinical Challenges and the Family Members' View in an AIP Mutation-Positive Family
INTRODUCTION: Germline aryl hydrocarbon receptor-interacting protein (AIP) mutations are responsible for 15–30% of familial isolated pituitary adenomas (FIPAs). We report a FIPA kindred with a heterozygous deletion in AIP, aiming to highlight the indications and benefits of genetic screening, variab...
Autores principales: | Marques, Pedro, Barry, Sayka, Ronaldson, Amy, Ogilvie, Arla, Storr, Helen L., Goadsby, Peter J., Powell, Michael, Dang, Mary N., Chahal, Harvinder S., Evanson, Jane, Kumar, Ajith V., Grieve, Joan, Korbonits, Márta |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5904812/ https://www.ncbi.nlm.nih.gov/pubmed/29849625 http://dx.doi.org/10.1155/2018/8581626 |
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