Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-hyperphosphatemia sy...
Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disorders
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Publisher
Berlin: Springer
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Language
English
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Publisher
Berlin: Springer
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Contents
Hyperphosphatemia-hyperostosis syndrome (HHS) is a rare autosomal recessive metabolic disorder characterized by elevated serum phosphate levels and repeated attacks of acute, painful swellings of the long bones with radiological evidence of periosteal reaction and cortical hyperostosis. HHS shares several clinical and metabolic features with hyperp...
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Full title
Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disorders
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TN_cdi_proquest_miscellaneous_67365776
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_67365776
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ISSN
0946-2716
E-ISSN
1432-1440
DOI
10.1007/s00109-004-0610-8
