associated skin disorder / Apert syndrome / multiple myeloma / severe disorder resembling homozygous achondroplasia / skin disorders / milder achondroplasia mutation / hyperpigmentation / clinically distinct disorders / often-lethal craniosynostosis disorder / achondroplasia mutation / both craniosynostosis / associated skeletal disorders / human skeletal disorders / thanatophoric dysplasia Summary Fibroblast growth factor receptors / Jackson-Weiss syndrome / thanatophoric dysplasia type I / thanatophoric dysplasia type II / disorder / non-syndromic craniosynostosis / Skeletal dwarfism / achondroplasia / achondroplasia mutant / FGFR-related craniosynostosis / related craniosynostosis / Craniosynostosis / short-limb dwarfism / tumor / certain autosomal dominant craniosynostosis / Thanatophoric Dysplasia / tumors / relatively common birth defect / Homozygous achondroplasia / spinal curvature / bone development disorders / suture craniosynostosis / dwarfism / distinct syndrome / certain cancers / Pfeiffer syndrome / acanthosis nigricans / different disorders / human cranial and skeletal disorders / human craniosynostosis / Crouzon syndrome / skeletal disorders / early respiratory failure / craniosynostosis disorders / thanatophoric dysplasias / Gly380Arg mutant causing achondroplasia / disorders / /
MedicalTreatment
Gene Therapy / /
Organization
National Institute of Health / Daniel J. Donoghue* Department of Chemistry and Biochemistry / Center for Molecular Genetics / University of California / San Diego / /
Person
Daniel J. Donoghue / Williams / Johnson / Melanie K. Webster / / /
Position
model / resi- IX / cfos-luciferase reporter / reporter / D. J. / /
Gene Therapy and Molecular Biology Vol 1, page 365 Gene Ther Mol Biol Vol 1, [removed]March, 1998. Constitutive activation of fibroblast growth factor receptors in human developmental syndromes Melanie K. Webster and Dan