Newly discovered mutations in the GALNT3 gene causing autosomal recessive hyperostosis-hyperphosphat...
Newly discovered mutations in the GALNT3 gene causing autosomal recessive hyperostosis-hyperphosphatemia syndrome
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Basingstoke: Informa UK Ltd
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English
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Basingstoke: Informa UK Ltd
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Background and purpose Periosteal new bone formation and cortical hyperostosis often suggest an initial diagnosis of bone malignancy or osteomyelitis. In the present study, we investigated the cause of persistent bone hyperostosis in the offspring of two consanguineous parents.
Methods Clinical assessment, imaging, and direct sequencing were use...
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Full title
Newly discovered mutations in the GALNT3 gene causing autosomal recessive hyperostosis-hyperphosphatemia syndrome
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TN_cdi_crossref_citationtrail_10_1080_17453670902807482
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_crossref_citationtrail_10_1080_17453670902807482
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ISSN
1745-3674
E-ISSN
1745-3682
DOI
10.1080/17453670902807482
