Expanding the Clinical Spectrum of Frasier Syndrome
Expanding the Clinical Spectrum of Frasier Syndrome
About this item
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Publisher
Los Angeles, CA: SAGE Publications
Journal title
Language
English
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Publication information
Publisher
Los Angeles, CA: SAGE Publications
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Scope and Contents
Contents
Frasier syndrome is an uncommon genetic disorder featuring progressive glomerulopathy, male pseudohermaphroditism, and gonadal dysgenesis with increased risk of gonadoblastoma and malignant germ cell tumors. It is caused by mutations in the donor splice site in intron 9 of the WT1 gene. However, because of its rarity there is limited literature ava...
Alternative Titles
Full title
Expanding the Clinical Spectrum of Frasier Syndrome
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TN_cdi_proquest_miscellaneous_69151107
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_69151107
Other Identifiers
ISSN
1093-5266
E-ISSN
1615-5742
DOI
10.2350/07-01-0209.1