Article

The Molecular and Genetic Basis of Fibroblast Growth Factor Receptor 3 Disorders: The Achondroplasia Family of Skeletal Dysplasias, Muenke Craniosynostosis, and Crouzon Syndrome with Acanthosis Nigricans

2000-02-01

Abstract excerpt

Achondroplasia, the most common form of short-limbed dwarfism in humans, occurs between 1 in 15,000 and 40,000 live births.More than 90% of cases are sporadic and there is, on average, an increased paternal age at the time of conception of affected individuals.More then 97% of persons with achondroplasia have a Gly380Arg mutation in the transmembrane domain of the fibroblast growth factor receptor (FGFR) 3 gene.Mu...

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Literature Corpus work: 6980a931-af0e-5141-8740-bbc4484ddf0c
DOI: 10.1210/er.21.1.23

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