Article
A novel PRKAR1A mutation associated with primary pigmented nodular adrenocortical disease and the Carney complex.
Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists - 1 Jan 2000
Peck Marcia C, Visser Brendan C, Norton Jeffrey A, Pasche Lezlee, Katznelson Laurence
Abstract excerpt
OBJECTIVE: To delineate the genetic and phenotypic features of Carney complex in a family with multiple cases of primary pigmented nodular adrenocortical disease (PPNAD). METHODS: Detailed clinical, laboratory, genetic, radiologic, and pathologic findings are presented, and the pertinent literature is reviewed. RESULTS: A 17-year-old girl presented with symptoms and physical findings suggestive of...
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