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A case of thanatophoric dysplasia type I with an R248C mutation in the FGFR3 gene
Eun Jung Noe, Han Wook Yoo, Kwang Nam Kim, So Yeon Lee
Clin Exp Pediatr. 2010;53(12):1022-1025.   Published online December 31, 2010
DOI: https://doi.org/10.3345/kjp.2010.53.12.1022

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A case of thanatophoric dysplasia type I with an R248C mutation in theFGFR3gene
Korean Journal of Pediatrics. 2010;53(12):1022   Crossref logo
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Improved diagnosis of a common mutation (R248C) in the human growth factor receptor 3 (FGFR3) gene that causes type I Thanatophoric dysplasia
Clinical Biochemistry. 2003;36(2):151-153   Crossref logo
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Second-trimester molecular diagnosis of a heterozygous 742C → T (R248C) mutation in the FGFR3 gene in a thanatophoric dysplasia variant following suspicious ultrasound findings
Ultrasound in Obstetrics and Gynecology. 2001;17(3):272-273   Crossref logo
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An unusual radiological finding in thanatophoric dysplasia type 1 with common mutation of the fibroblast growth factor receptor-3 (FGFR3) gene (Arg248Cys)
American Journal of Medical Genetics. 1997;71(1):122-123   Crossref logo
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<i>FGFR3</i> Gene Mutations in Chinese Cases of Thanatophoric Dysplasia Type 1
Fetal Diagnosis and Therapy. 2009;26(2):90-92   Crossref logo
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Atypical achondroplasia due to somatic mosaicism for the common thanatophoric dysplasia mutation R248C
American Journal of Medical Genetics Part A. 2011;158A(1):247-250   Crossref logo
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Effect of Thanatophoric Dysplasia Type I Mutations on FGFR3 Dimerization
Biophysical Journal. 2015;108(2):272-278   Crossref logo
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Somatic and germline mosaicism for a R248C missense mutation inFGFR3, resulting in a skeletal dysplasia distinct from thanatophoric dysplasia
American Journal of Medical Genetics. 2003;120A(2):157-168   Crossref logo
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The localization of FGFR3 mutations causing thanatophoric dysplasia type I differentially affects phosphorylation, processing and ubiquitylation of the receptor
FEBS Journal. 2007;274(12):3078-3093   Crossref logo
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Brain malformation with loss of normal FGFR3 expression in thanatophoric dysplasia type I
Neuropathology. 2013;33(6):663-666   Crossref logo
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