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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...

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Detalles Bibliográficos
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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2018
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