A variant in the sonic hedgehog regulatory sequence (ZRS) is associated with triphalangeal thumb and deregulates expression in the developing limb

A locus for triphalangeal thumb, variably associated with pre-axial polydactyly, was previously identified in the zone of polarizing activity regulatory sequence (ZRS), a long range limb-specific enhancer of the Sonic Hedgehog (SHH) gene at human chromosome 7q36.3. Here, we demonstrate that a 295T&g...

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Detalles Bibliográficos
Autores principales: Furniss, Dominic, Lettice, Laura A., Taylor, Indira B., Critchley, Paul S., Giele, Henk, Hill, Robert E., Wilkie, Andrew O.M.
Formato: Texto
Lenguaje:English
Publicado: Oxford University Press 2008
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2486440/
https://www.ncbi.nlm.nih.gov/pubmed/18463159
http://dx.doi.org/10.1093/hmg/ddn141

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2486440/
https://www.ncbi.nlm.nih.gov/pubmed/18463159
http://dx.doi.org/10.1093/hmg/ddn141

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