Association of the M1VPRKAR1AMutation with Primary Pigmented Nodular Adrenocortical Disease in Two Large Families | Zendy

Alberto M. Pereira | Zendy; Frederik J. Hes | Zendy; Anélia Horvath | Zendy; Sanne A Woortman | Zendy; Elizabeth Greene | Zendy; Eirini I. Bimpaki | Zendy; Anton Alatsatianos | Zendy; Sosipatros A. Boikos | Zendy; Johannes W. A. Smit | Zendy; Johannes A. Romijn | Zendy; Maria Nesterova | Zendy; Constantine A. Stratakis | Zendy

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Association of the M1VPRKAR1AMutation with Primary Pigmented Nodular Adrenocortical Disease in Two Large Families

Author(s) -

Alberto M. Pereira,

Frederik J. Hes,

Anélia Horvath,

Sanne A Woortman,

Elizabeth Greene,

Eirini I. Bimpaki,

Anton Alatsatianos,

Sosipatros A. Boikos,

Johannes W. A. Smit,

Johannes A. Romijn,

Maria Nesterova,

Constantine A. Stratakis

Publication year - 2009

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2009-0993

Subject(s) - carney complex , mutation , pathology , germline mutation , germline , disease , medicine , dermatology , biology , genetics , gene

Carney complex (CNC) is a familial multiple neoplasia syndrome frequently associated with primary pigmented nodular adrenocortical disease (PPNAD), a bilateral form of micronodular adrenal hyperplasia that leads to Cushing's syndrome (CS). Germline PRKAR1A mutations cause CNC and only rarely isolated PPNAD.

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