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Volumn 87, Issue 3, 1999, Pages 226-229

Prenatal sonographic diagnosis of hypochondroplasia in a high-risk fetus

Author keywords

Achondroplasia; FGFR3; Hypochondroplasia; Prenatal diagnosis; Skeletal dysplasia

Indexed keywords

FIBROBLAST GROWTH FACTOR 3;

EID: 0033607462     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19991126)87:3<226::AID-AJMG6>3.0.CO;2-S     Document Type: Article
Times cited : (15)

References (16)
  • 2
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    • Common mutations in the fibroblast growth factor receptor 3 (FGFR 3) gene account for achondroplasia, hypochondroplasia, and thanatophoric dwarfism
    • Bonaventure J, Rousseau F, Legeai-Mallet L, Le Merrer M, Munnich A, Maroteaux P. 1996. Common mutations in the fibroblast growth factor receptor 3 (FGFR 3) gene account for achondroplasia, hypochondroplasia, and thanatophoric dwarfism. Am J Med Genet 63:148-154.
    • (1996) Am J Med Genet , vol.63 , pp. 148-154
    • Bonaventure, J.1    Rousseau, F.2    Legeai-Mallet, L.3    Le Merrer, M.4    Munnich, A.5    Maroteaux, P.6
  • 5
    • 0022532297 scopus 로고
    • The prenatal growth of the human body determined by the measurement of bones and organs by ultrasonography
    • Elejalde BR, De Elejalde MM. 1986. The prenatal growth of the human body determined by the measurement of bones and organs by ultrasonography. Am J Med Genet 24:575-598.
    • (1986) Am J Med Genet , vol.24 , pp. 575-598
    • Elejalde, B.R.1    De Elejalde, M.M.2
  • 6
    • 0018707359 scopus 로고
    • Hypochondroplasia: Clinical and radiological aspects in 39 cases
    • Hall BD, Spranger J. 1979. Hypochondroplasia: clinical and radiological aspects in 39 cases. Radiology 133:95-100.
    • (1979) Radiology , vol.133 , pp. 95-100
    • Hall, B.D.1    Spranger, J.2
  • 8
    • 0025337645 scopus 로고
    • Prenatal diagnosis of skeletal dysplasia identified postnatally as hypochondroplasia
    • Jones SM, Robinson LK, Sperrazza R. 1990. Prenatal diagnosis of skeletal dysplasia identified postnatally as hypochondroplasia. Am J Med Genet 36:404-407.
    • (1990) Am J Med Genet , vol.36 , pp. 404-407
    • Jones, S.M.1    Robinson, L.K.2    Sperrazza, R.3
  • 9
    • 0029125688 scopus 로고
    • Homozygous achondroplasia: US distinction between homozygous, heterozygous, and unaffected fetuses in the second trimester
    • Patel MD, Filly RA. 1995. Homozygous achondroplasia: US distinction between homozygous, heterozygous, and unaffected fetuses in the second trimester. Radiology 196:541-545.
    • (1995) Radiology , vol.196 , pp. 541-545
    • Patel, M.D.1    Filly, R.A.2
  • 13
    • 0023248409 scopus 로고
    • Achondroplasia-hypochondroplasia complex
    • Sommer A, Young-Wee T, Frye T. 1987. Achondroplasia-hypochondroplasia complex. Am J Med Genet 26:949-957.
    • (1987) Am J Med Genet , vol.26 , pp. 949-957
    • Sommer, A.1    Young-Wee, T.2    Frye, T.3
  • 14
    • 0028924820 scopus 로고
    • A common FGFR3 gene mutation is present in achondroplasia but not in hypochondroplasia
    • Stoilov I, Kilpatrick MW, Tsipouras P. 1995. A common FGFR3 gene mutation is present in achondroplasia but not in hypochondroplasia. Am J Med Genet 55:127-133.
    • (1995) Am J Med Genet , vol.55 , pp. 127-133
    • Stoilov, I.1    Kilpatrick, M.W.2    Tsipouras, P.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.