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Dental findings in a family with hyperparathyroidism–jaw tumor syndrome and a novel HRPT2 gene mutation

✍ Scribed by Michael J. Aldred; Anna A. Talacko; Ravi Savarirayan; Vince Murdolo; Alan E. Mills; Bryan G. Radden; Andrei Alimov; Andrea Villablanca; Catharina Larsson


Book ID
116941203
Publisher
Elsevier Science
Year
2006
Tongue
English
Weight
618 KB
Volume
101
Category
Article
ISSN
1528-395X

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## Abstract Axenfeld‐Rieger Syndrome (ARS) is a genetically heterogeneous birth defect characterized by malformation of the anterior segment of the eye associated with glaucoma. Mutation of the __PITX2__ homeobox gene has been identified as a cause of ARS. We report a novel Arg5Trp missense mutatio