Finding genes involved in human developmental disorders.
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.
Muenke
M
M
University of Pennsylvania, Philadelphia, USA.
D000015:Abnormalities, Multiple / Q000235:genetics; D000130:Achondroplasia / Q000235:genetics; D001848:Bone Diseases, Developmental / Q000235:genetics*; D000013:Congenital Abnormalities / Q000235:genetics*; D003398:Craniosynostoses / Q000235:genetics; D004392:Dwarfism / Q000235:genetics; D008040:Genetic Linkage; D006801:Humans; D009154:Mutation; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics; D014960:X Chromosome
D017468:Receptors, Fibroblast Growth Factor