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HRPT2, encoding parafibromin, is mutated in hyperparathyroidism–jaw tumor syndrome

✍ Scribed by Carpten, J.D.; Robbins, C.M.; Villablanca, A.; Forsberg, L.; Presciuttini, S.; Bailey-Wilson, J.; Simonds, W.F.; Gillanders, E.M.; Kennedy, A.M.; Chen, J.D.


Book ID
109918149
Publisher
Nature Publishing Group
Year
2002
Tongue
English
Weight
580 KB
Volume
32
Category
Article
ISSN
1061-4036

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The hyperparathyroidism-jaw tumor (HPT-JT) syndrome is an autosomal dominant disorder characterized by the occurrence of parathyroid tumors in association with ossifying fibromas of the maxilla and/or mandible. The gene responsible for HPT-JT, known as CDC73, was identified in 2002 and encodes a 531