Open AccessSystematic screening for PRKAR1A gene rearrangement in Carney complex: identification and functional characterization of a new in-frame deletion
Author(s) -
Marine Guillaud Bataille,
Yara Rhayem,
Sérgio B. Sousa,
Rossella Libé,
Magalie Dambrun,
Claire Chevalier,
M Nigou,
Colette Auzan,
M.O. North,
Juliana M. Sá,
Leonor Gomes,
P Salpea,
Anélia Horvath,
Constantine A. Stratakis,
Nadim Hamzaoui,
Jérôme Bertherat,
Éric Clauser
Publication year - 2013
Publication title -
european journal of endocrinology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.897
H-Index - 148
eISSN - 1479-683X
pISSN - 0804-4643
DOI - 10.1530/eje-13-0740
Subject(s) - carney complex , gene , genetics , identification (biology) , biology , computational biology , botany
Point mutations of the PRKAR1A gene are a genetic cause of Carney complex (CNC) and primary pigmented nodular adrenocortical disease (PPNAD), but in 30% of the patients no mutation is detected.
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