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Journal article

Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a skeletal dysplasia distinct from thanatophoric dysplasia

VJ Hyland, SP Robertson, S Flanagan, R Savarirayan, T Roscioli, J Masel, M Hayes, IA Glass

American Journal of Human Genetics | WILEY | Published : 2003

DOI: 10.1002/ajmg.a.20012

University of Melbourne Researchers

Ravi Savarirayan's Profile Picture
Ravi Savarirayan Author Paediatrics Royal Children's Hospital

Citation metrics

23Web of Science
25Dimensions

Keywords

Humans
Heterozygote
Chromatography, High Pressure Liquid
Mosaicism
Skeletal Dysplasia
Fibroblast Growth Factor Receptor
Point Mutation
Lys650met Mutation
Sequence Analysis, Dna
Science & Technology
Domain
Activation
Bone Diseases, Developmental
Middle Aged
Musculoskeletal Abnormalities
Growth-Factor Receptor-3
Developmental Delay
Female
Mutation, Missense
Epidermal Hyperplasia
Mutation
Hyperplasia
Acanthosis Nigricans
Body Height
Thanatophoric Dysplasia
Receptors, Fibroblast Growth Factor
Life Sciences & Biomedicine
Achondroplasia
Receptor, Fibroblast Growth Factor, Type 3
Genetics & Heredity
Radiography
Cysteine
Protein-Tyrosine Kinases

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