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A point mutation in the pre-ZRS disrupts sonic hedgehog expression in the limb bud and results in tr...

A point mutation in the pre-ZRS disrupts sonic hedgehog expression in the limb bud and results in tr...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2014139953

A point mutation in the pre-ZRS disrupts sonic hedgehog expression in the limb bud and results in triphalangeal thumb–polysyndactyly syndrome

About this item

Full title

A point mutation in the pre-ZRS disrupts sonic hedgehog expression in the limb bud and results in triphalangeal thumb–polysyndactyly syndrome

Publisher

New York: Nature Publishing Group US

Journal title

Genetics in medicine, 2018-11, Vol.20 (11), p.1405-1413

Language

English

Formats

Publication information

Publisher

New York: Nature Publishing Group US

More information

Scope and Contents

Contents

Purpose
The zone of polarizing activity regulatory sequence (ZRS) is an enhancer that regulates sonic hedgehog during embryonic limb development. Recently, mutations in a noncoding evolutionary conserved sequence 500 bp upstream of the ZRS, termed the pre-ZRS (pZRS), have been associated with polydactyly in dogs and humans. Here, we report the f...

Alternative Titles

Full title

A point mutation in the pre-ZRS disrupts sonic hedgehog expression in the limb bud and results in triphalangeal thumb–polysyndactyly syndrome

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_miscellaneous_2014139953

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2014139953

Other Identifiers

ISSN

1098-3600

E-ISSN

1530-0366

DOI

10.1038/gim.2018.18

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