APRKAR1AMutation Associated with Primary Pigmented Nodular Adrenocortical Disease in 12 Kindreds | Zendy

Lionel Groussin | Zendy; Anélia Horvath | Zendy; Eric Jullian | Zendy; Sosipatros A. Boikos | Zendy; Fernande René-Corail | Zendy; Hervé Lefèbvre | Zendy; Fritz-Line Cephise-Velayoudom | Zendy; MarieChristine Vantyghem | Zendy; Philippe Chanson | Zendy; B. ConteDevolx | Zendy; Miguel Lucas | Zendy; Alfonso Gentil | Zendy; Carl D. Malchoff | Zendy; Frédérique Tissier | Zendy; J. Aidan Carney | Zendy; Xavier Bertagna | Zendy; Constantine A. Stratakis | Zendy; Jérôme Bertherat | Zendy

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APRKAR1AMutation Associated with Primary Pigmented Nodular Adrenocortical Disease in 12 Kindreds

Author(s) -

Lionel Groussin,

Anélia Horvath,

Eric Jullian,

Sosipatros A. Boikos,

Fernande René-Corail,

Hervé Lefèbvre,

Fritz-Line Cephise-Velayoudom,

MarieChristine Vantyghem,

Philippe Chanson,

B. ConteDevolx,

Miguel Lucas,

Alfonso Gentil,

Carl D. Malchoff,

Frédérique Tissier,

J. Aidan Carney,

Xavier Bertagna,

Constantine A. Stratakis,

Jérôme Bertherat

Publication year - 2006

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.2005-2708

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

Primary pigmented nodular adrenocortical disease (PPNAD), a rare cause of corticotropin-independent Cushing syndrome, can be part of Carney complex (CNC), an autosomal dominant multiple neoplasia syndrome characterized by spotty skin pigmentation, cardiac myxomas, and endocrine tumors or be isolated (i). Germline PRKAR1A-inactivating mutations have been observed in both CNC and iPPNAD, but with no apparent genotype-phenotype correlation.

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