Two nonsense GLI3 variants are associated with polydactyly and syndactyly in two families by affecti...
Two nonsense GLI3 variants are associated with polydactyly and syndactyly in two families by affecting the sonic hedgehog signaling pathway
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Publisher
United States: John Wiley & Sons, Inc
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Language
English
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Publisher
United States: John Wiley & Sons, Inc
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Contents
Background
Polydactyly and syndactyly are congenital limb deformities, segregating in an autosomal‐dominant fashion. The variants in the GLI3 gene are closely related to congenital limb malformations. However, the causes underlying polydactyly and syndactyly are not well understood.
Methods
We conducted a whole‐exome sequencing on two four...
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Full title
Two nonsense GLI3 variants are associated with polydactyly and syndactyly in two families by affecting the sonic hedgehog signaling pathway
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TN_cdi_doaj_primary_oai_doaj_org_article_15bd81b75d98423ea4f03510a4b417f2
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_15bd81b75d98423ea4f03510a4b417f2
Other Identifiers
ISSN
2324-9269
E-ISSN
2324-9269
DOI
10.1002/mgg3.1895
