Why study human limb malformations?

Andrew O M Wilkie

doi:10.1046/j.1469-7580.2003.00130.x

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Why study human limb malformations?

Andrew O M Wilkie

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Abstract

Congenital limb malformations occur in 1 in 500 to 1 in 1000 human live births and include both gross reduction defects and more subtle alterations in the number, length and anatomy of the digits. The major causes of limb malformations are abnormal genetic programming and intra-uterine disruption to development. The identification of causative gene mutations is important for genetic counselling and also provides insights into the mechanisms controlling limb development. This article illustrates some of the lessons learnt from the study of human limb malformation, organized into seven categories. These are: (1) identification of novel genes, (2) allelic mutation series, (3) pleiotropy, (4) qualitative or (5) quantitative differences between mouse and human development, (6) physical and teratogenic disruption, and (7) unusual biological phenomena.

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Animals Chorionic Villi Sampling Extremities Female Gene Expression Regulation, Developmental Gestational Age Hedgehog Proteins Humans Limb Deformities, Congenital Mice Morphogenesis Mutation Pregnancy Research Design Species Specificity Trans-Activators Journal Article Research Support, Non-U.S. Gov't

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Andrew O M Wilkie. 2003. Why study human limb malformations?. https://doi.org/10.1046/j.1469-7580.2003.00130.x

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