Cantú Syndrome with Coexisting Familial Pituitary Adenoma

    January 2018 in “ Endocrine
    Pedro Marques, Rupert Spencer, Patrick J. Morrison, Ian Carr, Mary Dang, David T. Bonthron, Steven Hunter, Márta Korbonits
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    Studysummary This report describes a three-generation family with Cantú syndrome linked to a novel ABCC9 gene variant, featuring acromegaloid appearance and hypertrichosis without growth hormone abnormalities, and suggests a potential association with pituitary adenomas.
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