메뉴 건너뛰기




Volumn 53, Issue 12, 2010, Pages 1022-1025

A case of thanatophoric dysplasia type I with an R248C mutation in the FGFR3 gene

Author keywords

Fbroblast growth factor receptor 3 (FGFR3) gene; Thanatophoric dysplasia

Indexed keywords


EID: 79951805648     PISSN: 17381061     EISSN: 20927258     Source Type: Journal    
DOI: 10.3345/kjp.2010.53.12.1022     Document Type: Article
Times cited : (8)

References (13)
  • 2
  • 3
    • 0035099946 scopus 로고    scopus 로고
    • Prenatal diagnosis and genetic analysis of type I and type II thanatophoric dysplasia
    • Chen CP, Chern SR, Shih JC, Wang W, Yeh LF, Chang TY, et al. Prenatal diagnosis and genetic analysis of type I and type II thanatophoric dysplasia. Prenat Diagn 2001;21:89-95.
    • (2001) Prenat Diagn , vol.21 , pp. 89-95
    • Chen, C.P.1    Chern, S.R.2    Shih, J.C.3    Wang, W.4    Yeh, L.F.5    Chang, T.Y.6
  • 5
    • 55149106566 scopus 로고    scopus 로고
    • Prenatal diagnosis of thanatophoric dysplasia by 3-D helical computed tomography and genetic analysis
    • Tsutsumi S, Sawai H, Nishimura G, Hayasaka K, Kurachi H. Prenatal diagnosis of thanatophoric dysplasia by 3-D helical computed tomography and genetic analysis. Fetal Diagn Ther 2008;24:420-4.
    • (2008) Fetal Diagn Ther , vol.24 , pp. 420-424
    • Tsutsumi, S.1    Sawai, H.2    Nishimura, G.3    Hayasaka, K.4    Kurachi, H.5
  • 7
    • 0027409017 scopus 로고
    • Unique expression pattern of the FGF receptor 3 gene during mouse organogenesis
    • Peters K, Ornitz D, Werner S, Williams L. Unique expression pattern of the FGF receptor 3 gene during mouse organogenesis. Dev Biol 1993;155:423-30.
    • (1993) Dev Biol , vol.155 , pp. 423-430
    • Peters, K.1    Ornitz, D.2    Werner, S.3    Williams, L.4
  • 8
    • 0030485182 scopus 로고    scopus 로고
    • Common mutations in the gene encoding fibroblast growth factor receptor 3 account for achondroplasia, hypochondroplasia and thanatophoric dysplasia
    • Bonaventure J, Rousseau F, Legeai-Mallet L, Le Merrer M, Munnich A, Maroteaux P. Common mutations in the gene encoding fibroblast growth factor receptor 3 account for achondroplasia, hypochondroplasia and thanatophoric dysplasia. Acta Paediatr Suppl 1996;417:33-8.
    • (1996) Acta Paediatr Suppl , vol.417 , pp. 33-38
    • Bonaventure, J.1    Rousseau, F.2    Legeai-Mallet, L.3    le Merrer, M.4    Munnich, A.5    Maroteaux, P.6
  • 9
    • 27744544147 scopus 로고    scopus 로고
    • Prenatal diagnosis and molecular analysis of type 1 thanatophoric dysplasia
    • Li D, Liao C, Ma X. Prenatal diagnosis and molecular analysis of type 1 thanatophoric dysplasia. Int J Gynaecol Obstet 2005;91:268-70.
    • (2005) Int J Gynaecol Obstet , vol.91 , pp. 268-270
    • Li, D.1    Liao, C.2    Ma, X.3
  • 10
    • 0023263976 scopus 로고
    • The importance of early prenatal diagnosis of thanatophoric dysplasia with respect to obstetric management
    • Loong EP. The importance of early prenatal diagnosis of thanatophoric dysplasia with respect to obstetric management. Eur J Obstet Gynecol Reprod Biol 1987;25:145-52.
    • (1987) Eur J Obstet Gynecol Reprod Biol , vol.25 , pp. 145-152
    • Loong, E.P.1
  • 11
    • 84895911839 scopus 로고    scopus 로고
    • Mutation at exon 10 of the fibroblast growth factor receptor 3 (FGFR3) in a fetus with thanatophoric dysplasia type I (TDI)
    • Yang WK, Park WI, Ko DS, Kim SH, Kim EK, Lee HJ. Mutation at exon 10 of the fibroblast growth factor receptor 3 (FGFR3) in a fetus with thanatophoric dysplasia type I (TDI). Korean J Obstet Gynecol 1999;42:2214-20.
    • (1999) Korean J Obstet Gynecol , vol.42 , pp. 2214-2220
    • Yang, W.K.1    Park, W.I.2    Ko, D.S.3    Kim, S.H.4    Kim, E.K.5    Lee, H.J.6
  • 12


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.