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Article

Haploinsufficiency at the Protein Kinase A RIα Gene Locus Leads to Fertility Defects in Male Mice and Men

25 May 2006

Abstract excerpt

Carney complex (CNC) is a familial multiple neoplasia syndrome characterized by spotty skin pigmentation, cardiac and cutaneous myxomas, and endocrine tumors. CNC is inherited as an autosomal dominant trait and is transmitted with greater frequency by women vs. men. Nearly two thirds of CNC patients are heterozygous for inactivating mutations in the gene encoding the protein kinase A (PKA) type I alpha regulatory...

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PMID: 16728532
DOI: 10.1210/me.2006-0060

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