Abstract
Recent advances in the human genome initiative have accelerated positional cloning efforts toward identification of a number of genes responsible for human developmental anomalies, particularly those involving the skeletal system. Genotype/phenotype comparison and functional analysis of these genes will further elucidate pathways of normal and abnormal human development of the skeletal and other organ systems.
Publication types
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Comparative Study
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Research Support, U.S. Gov't, P.H.S.
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Review
MeSH terms
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Abnormalities, Multiple / genetics
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Achondroplasia / genetics
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Bone Diseases, Developmental / genetics*
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Congenital Abnormalities / genetics*
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Craniosynostoses / genetics
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Dwarfism / genetics
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Genetic Linkage
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Humans
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Mutation
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Receptors, Fibroblast Growth Factor / genetics
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X Chromosome
Substances
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Receptors, Fibroblast Growth Factor