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Trends Genet. 2000 Jun;16(6):265-71.

RTK mutations and human syndromeswhen good receptors turn bad.

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Department of Chemistry and Biochemistry, and Center for Molecular Genetics, University of California, San Diego, La Jolla, CA 92093-0367, USA.

Erratum in

  • Trends Genet 2000 Aug;16(8):368.


Mutations in receptor tyrosine kinases (RTKs) have been linked to an increasing number of inherited human disease syndromes, including dwarfism, craniosynostosis, heritable cancer susceptibility, venous malformation and Piebaldism. Both gain-of-function mutations resulting in constitutive receptor activation, and loss-of-function mutations resulting in non-functional or dominant negative receptors, have been observed. This review summarizes RTK families that are involved in inherited syndromes, describes the molecular consequences of the disease mutations, and predicts that many novel mutations remain to be identified.

[Indexed for MEDLINE]

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