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Strachan T, Read AP. Human Molecular Genetics. 2nd edition. New York: Wiley-Liss; 1999.

Cover of Human Molecular Genetics

Human Molecular Genetics. 2nd edition.

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Figure 16.8. FGFR mutations.

Figure 16.8FGFR mutations

Three of the four highly homologous fibroblast growth factor receptors are shown. Each receptor tyrosine kinase has three immunoglobulin-like extracellular domains (held by S-S bridges), a transmembrane domain, and paired intracellular tyrosine kinase domains. Very specific missense mutations are associated with a series of skeletal dysplasias (achondroplasia A, hypochondroplasia H, thanatophoric dysplasia Types 1 and 2, T1 and T2) and craniosynostosis syndromes (Apert Ap, Crouzon C, Jackson-Weiss JW, Muencke M, Pfeiffer P). Other mutations can cause the Beare-Stevenson cutis gyrata skin disease (CA). Some mutations in the Ig3 domain of FGFR2 are associated in different families with Crouzon, Jackson-Weiss and Pfeiffer syndromes.

From: Chapter 16, Molecular pathology

Copyright © 1999, Garland Science.


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