Recurrent Hyperparathyroidism Due to a Novel CDC73 Splice Mutation

ABSTRACT The recognition of hereditary causes of primary hyperparathyroidism (pHPT) is important because clinical care and surveillance differ significantly between sporadic and hereditary pHPT. In addition, the increasing number of genetic tests poses a challenge to classify mutations as benign or...

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Veröffentlicht in:	Journal of bone and mineral research 2017-08, Vol.32 (8), p.1640-1643
Hauptverfasser:	Hattangady, Namita Ganesh, Wilson, Tremika Le‐Shan, Miller, Barbra Sue, Lerario, Antonio Marcondes, Giordano, Thomas James, Choksi, Palak, Else, Tobias
Format:	Artikel
Sprache:	eng
Schlagworte:	Benign CDC73 Forearm Genetic screening Heterozygosity Humans HYPERPARATHYROIDISM Hyperparathyroidism - genetics Hyperparathyroidism - metabolism Hyperparathyroidism - pathology Leukocytes (mononuclear) Loss of heterozygosity Male Middle Aged Mutation Neck PARAFIBROMIN Parathyroid Parathyroid hormone Parathyroidectomy Pathogenicity Point Mutation Polymerase chain reaction RNA Splice Sites SPLICE MUTATION Surgery Tumor Suppressor Proteins - genetics Tumor Suppressor Proteins - metabolism
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