RTK mutations and human syndromes: when good receptors turn bad

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 a...

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Veröffentlicht in:	Trends in Genetics 2000-06, Vol.16 (6), p.265-271
Hauptverfasser:	Robertson, Scott C, Tynan, John A, Donoghue, Daniel J
Format:	Artikel
Sprache:	eng
Schlagworte:	Craniosynostosis dwarfism Dwarfism syndrome Fibroblast growth factor Pfeiffer syndrome Rabson-Mendenhall syndrome Receptor tyrosine kinase RET
Online-Zugang:	Volltext
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