Labrini Papanastasiou Stelios Fountoulakis Nikos Voulgaris Theodora Kounadi Theodosia Choreftaki Akrivi Kostopoulou George Zografos Charalampos Lyssikatos Constantine A Stratakis George Piaditis
10.14310/horm.2002.1627
Hormones (Athens)
2016 Jan-Mar;15(1):129-35.
author_manuscript
https://pubmed.ncbi.nlm.nih.gov/27377598/
Carney Complex / genetics Carney Complex / metabolism Cyclic AMP-Dependent Protein Kinase RIalpha Subunit / metabolism Fractures, Spontaneous / etiology Osteoporosis / etiology
Carney Complex / genetics Carney Complex / metabolism Cyclic AMP-Dependent Protein Kinase RIalpha Subunit / metabolism Fractures, Spontaneous / etiology Osteoporosis / etiology Case Reports Research Support, N.I.H., Intramural Review Cyclic AMP-Dependent Protein Kinase RIalpha Subunit / genetics Fractures, Spontaneous / pathology Gene Expression Regulation Humans Male Middle Aged Mutation Osteoporosis / pathology Cyclic AMP-Dependent Protein Kinase RIalpha Subunit PRKAR1A protein, human
PMC7427502
27377598
Identification of a novel mutation of the PRKAR1A gene in a patient with Carney complex with significant osteoporosis and recurrent fractures
2016