PRKAR1AandPDE4DMutations Cause Acrodysostosis but Two Distinct Syndromes with or without GPCR-Signaling Hormone Resistance | Zendy

Agnès Linglart | Zendy; Helena Fryssira | Zendy; Olaf Hiort | Zendy; Paul-Martin Holterhus | Zendy; Guiomar Pérez de Nanclares | Zendy; Jesús Argente | Zendy; Claudine Heinrichs | Zendy; Alma Kuechler | Zendy; Giovanna Mantovani | Zendy; Bruno Leheup | Zendy; Philippe Wicart | Zendy; Virginie Chassot | Zendy; Dorothée Schmidt | Zendy; Oscar RubioCabezas | Zendy; Annette Richter-Unruh | Zendy; Sara Berrade | Zendy; Arrate Pereda | Zendy; Emese Boros | Zendy; M.T. Muñoz-Calvo | Zendy; Marco Castori | Zendy; Yasemin Güneş | Zendy; Guylène Bertrand | Zendy; Pierre Bougnères | Zendy; Éric Clauser | Zendy; Caroline Silve | Zendy

Open Access

PRKAR1AandPDE4DMutations Cause Acrodysostosis but Two Distinct Syndromes with or without GPCR-Signaling Hormone Resistance

Author(s) -

Agnès Linglart,

Helena Fryssira,

Olaf Hiort,

Paul-Martin Holterhus,

Guiomar Pérez de Nanclares,

Jesús Argente,

Claudine Heinrichs,

Alma Kuechler,

Giovanna Mantovani,

Bruno Leheup,

Philippe Wicart,

Virginie Chassot,

Dorothée Schmidt,

Oscar RubioCabezas,

Annette Richter-Unruh,

Sara Berrade,

Arrate Pereda,

Emese Boros,

M.T. Muñoz-Calvo,

Marco Castori,

Yasemin Güneş,

Guylène Bertrand,

Pierre Bougnères,

Éric Clauser,

Caroline Silve

Publication year - 2012

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.2012-2326

Subject(s) - mutation , phenotype , biology , genetics , g protein coupled receptor , cancer research , signal transduction , gene

Acrodysostosis is a rare skeletal dysplasia that is associated with multiple resistance to G protein-coupled receptor (GPCR) signaling hormones in a subset of patients. Acrodysostosis is genetically heterogeneous because it results from heterozygous mutations in PRKAR1A or PDE4D, two key actors in the GPCR-cAMP-protein kinase A pathway.

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