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Expanding the Clinical Spectrum of Frasier Syndrome

Expanding the Clinical Spectrum of Frasier Syndrome

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_69151107

Expanding the Clinical Spectrum of Frasier Syndrome

About this item

Full title

Expanding the Clinical Spectrum of Frasier Syndrome

Publisher

Los Angeles, CA: SAGE Publications

Journal title

Pediatric and developmental pathology, 2008-03, Vol.11 (2), p.122-127

Language

English

Formats

Publication information

Publisher

Los Angeles, CA: SAGE Publications

More information

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

Identifiers

Primary Identifiers

Record Identifier

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

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