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Mechanisms of digit formation: Human malformation syndromes tell the story

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http://pubman.mpdl.mpg.de/cone/persons/resource/persons50578

Stricker,  S.
Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society;

http://pubman.mpdl.mpg.de/cone/persons/resource/persons50437

Mundlos,  S.
Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society;

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Citation

Stricker, S., & Mundlos, S. (2011). Mechanisms of digit formation: Human malformation syndromes tell the story. Dev Dyn, 240(5), 990-1004. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/21337664 http://onlinelibrary.wiley.com/store/10.1002/dvdy.22565/asset/22565_ftp.pdf?v=1&t=gyzw8k94&s=70c87ec284feabc059aa18c47a8f946bd2472c6b.


Cite as: http://hdl.handle.net/11858/00-001M-0000-0010-7828-5
Abstract
Identifying the genetic basis of human limb malformation disorders has been instrumental in improving our understanding of limb development. Abnormalities of the hands and/or feet include defects affecting patterning, establishment, elongation, and segmentation of cartilaginous condensations, as well as growth of the individual skeletal elements. While the phenotype of such malformations is highly diverse, the mutations identified to date cluster in genes implicated in a limited number of molecular pathways, namely hedgehog, Wnt, and bone morphogenetic protein. The latter pathway appears to function as a key molecular network regulating different phases of digit and joint development. Studies in animal models not only extended our insight into the pathogenesis of these conditions, but have also contributed to our understanding of the in vivo functions and interactions of these key players. This review is aimed at integrating the current understanding of human digit malformations into the increasing knowledge of the molecular mechanisms of digit development. Developmental Dynamics 240:990-1004, 2011. (c) 2011 Wiley-Liss, Inc.