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Phenotypic confirmation of oligodontia, colorectal polyposis and cancer in a family carrying an exon...

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Record title

Phenotypic confirmation of oligodontia, colorectal polyposis and cancer in a family carrying an exon 7 nonsense variant in the AXIN2 gene

Record identifier

TN_cdi_proquest_miscellaneous_2179481365

Phenotypic confirmation of oligodontia, colorectal polyposis and cancer in a family carrying an exon 7 nonsense variant in the AXIN2 gene

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https://collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2179481365

Phenotypic confirmation of oligodontia, colorectal polyposis and cancer in a family carrying an exon 7 nonsense variant in the AXIN2 gene

Full title

Phenotypic confirmation of oligodontia, colorectal polyposis and cancer in a family carrying an exon 7 nonsense variant in the AXIN2 gene

Publisher

Dordrecht: Springer Netherlands

Journal title

Familial cancer, 2019, Vol.18 (3), p.311-315

Record Identifier

TN_cdi_proquest_miscellaneous_2179481365

Language

English

Formats

Publication information

Publisher

Dordrecht: Springer Netherlands

More information

SCOPE AND CONTENTS

Contents

The
AXIN2
gene, like
APC
, plays a role in the Wnt signalling pathway involved in colorectal tumour formation. Heterozygous mutations in
AXIN2
have been shown to cause ectodermal dysplasia (including tooth agenesis, or more specifically, oligodontia), and, in some carriers, colorectal cancer and/or adenomatous polyposis develops....

ALTERNATIVE TITLES

Full title

Phenotypic confirmation of oligodontia, colorectal polyposis and cancer in a family carrying an exon 7 nonsense variant in the AXIN2 gene

Identifiers

PRIMARY IDENTIFIERS

Record Identifier

TN_cdi_proquest_miscellaneous_2179481365

Permalink

https://collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2179481365

OTHER IDENTIFIERS

ISSN

1389-9600

E-ISSN

1573-7292

DOI

10.1007/s10689-019-00120-0

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