Clinical and genetic variability of PAX2-related disorder in the Japanese population
Clinical and genetic variability of PAX2-related disorder in the Japanese population
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England: Nature Publishing Group
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English
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England: Nature Publishing Group
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Contents
Pathogenic variants of paired box gene 2 (PAX2) cause autosomal-dominant PAX2-related disorder, which includes renal coloboma syndrome (RCS). Patients with PAX2-related disorder present with renal and ophthalmological pathologies, as well as with other abnormalities, including developmental problems and hearing loss. We sequenced PAX2 in 457 patien...
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Full title
Clinical and genetic variability of PAX2-related disorder in the Japanese population
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TN_cdi_proquest_journals_2393650543
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2393650543
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ISSN
1434-5161,1435-232X
E-ISSN
1435-232X
DOI
10.1038/s10038-020-0741-y
