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J Child Orthop. 2008 Feb;2(1):1-9. doi: 10.1007/s11832-008-0076-2. Epub 2008 Feb 7.

Genetic regulation of embryological limb development with relation to congenital limb deformity in humans.

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MP817, Southampton General Hospital, Tremona Road, Southampton, SO16 6YD, UK,


Over the last 15 years, great improvements in genetic engineering and genetic manipulation strategies have led to significant advances in the understanding of the genetics governing embryological limb development. This field of science continues to develop, and the complex genetic interactions and signalling pathways are still not fully understood. In this review we will discuss the roles of the principle genes involved in the three-dimensional patterning of the developing limb and will discuss how errors in these signalling cascades correlate to congenital limb deformity in humans. This review is aimed at orthopaedic surgeons wishing to understand the principles of congenital limb deformity related to genetic signalling errors. It is by no means a comprehensive study of the molecular genetics governing the complex interactions involved in each step of limb development. There are however many syndromes involving limb deformity for which the molecular causes are unknown.

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