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

American Journal of Medical Genetics

Volumn 120 A, Issue 2, 2003, Pages 157-168

  Hyland, Valentine J ^a,b   Robertson, Stephen P ^c   Flanagan, Simon ^a   Savarirayan, Ravi ^c,d   Roscioli, Tony ^a,e   Masel, John ^f   Hayes, Mark ^a   Glass, Ian A ^a,e,g  

^a UNIVERSITY OF QUEENSLAND   (Australia)

^b ROYAL BRISBANE AND WOMEN'S HOSPITAL   (Australia)

^c ROYAL CHILDREN'S HOSPITAL   (Australia)

^d UNIVERSITY OF MELBOURNE   (Australia)

^e Herston Hospitals Campus   (Australia)

^f ROYAL CHILDREN'S HOSPITAL   (Australia)

^g UNIVERSITY OF WASHINGTON   (United States)

Author keywords

Acanthosis nigricans; Epidermal hyperplasia; Fibroblast growth factor receptor; Mosaicism; Mutation; Skeletal dysplasia; Thanatophoric dysplasia

Indexed keywords

CYSTEINE; FIBROBLAST GROWTH FACTOR RECEPTOR 3; GENOMIC DNA;

ACANTHOSIS NIGRICANS; ADULT; ARTICLE; BONE DYSPLASIA; CASE REPORT; CLINICAL FEATURE; CONTROLLED STUDY; COXA VARA; EPIDERMIS HYPERPLASIA; FEMALE; GENETIC CODE; GENETIC LINKAGE; GERM LINE; HETEROZYGOSITY; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; HUMAN CELL; LUNG HYPOPLASIA; LYMPHOCYTE; MISSENSE MUTATION; MOSAICISM; PRIORITY JOURNAL; PROTEIN DENATURATION; SHORT STATURE; SOMATIC CELL GENETICS; THANATOPHORIC DWARFISM;

EID: 0041321508     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20012     Document Type: Article

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