A specific mutation in the distant sonic hedgehog (SHH)cis-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumb-Reference-Cited by-同舟云学术

Published:2010-01 Issue:1 Volume:31 Page:81-89
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Wieczorek Dagmar,Pawlik Barbara,Li Yun,Akarsu Nurten A.,Caliebe Almuth,May Klaus J.W.,Schweiger Bernd,Vargas Fernando R.,Balci Sevim,Gillessen-Kaesbach Gabriele,Wollnik Bernd

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.21142/fullpdf

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5. A variant in the sonic hedgehog regulatory sequence (ZRS) is associated with triphalangeal thumb and deregulates expression in the developing limb;Furniss;Hum Mol Genet,2008

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