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Article

Phenotypic and genotypic features of a large kindred with a germline AIP variant.

Clinical endocrinology - 1 Aug 2020

Dal Jakob, Nielsen Eigil H, Klose Marianne, Feldt-Rasmussen Ulla, Andersen Marianne, Vang Søren, Korbonits Márta, Jørgensen Jens Otto L

Abstract excerpt

CONTEXT: Acromegaly is usually a sporadic disease, but familial cases occur. Mutations in the aryl hydrocarbon receptor-interacting protein (AIP) gene are associated with familial pituitary adenoma predisposition. However, the pathogenicity of some AIP variants remains unclear and additional unknown genes may be involved. OBJECTIVE: To explore the phenotype and genotype of a large kindred carrying the p.R304Q AIP...

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PMID: 32324286
DOI: 10.1111/cen.14207

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