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Volumn 8, Issue 6, 1996, Pages 425-428

Prenatal diagnosis of type 2 Pfeiffer syndrome

Author keywords

Clover leaf skull deformity; Craniosynostosis; Pfeiffer syndrome; Prenatal diagnosis; Ultrasound

Indexed keywords

ACROCEPHALOSYNDACTYLY; ADULT; ARTICLE; CASE REPORT; CONGENITAL MALFORMATION; ECHOGRAPHY; FEMALE; GESTATIONAL AGE; HUMAN; INDUCED ABORTION; PATHOLOGY; PREGNANCY; PROGNOSIS; SKULL;

EID: 0030331001     PISSN: 09607692     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1469-0705.1997.08060425.x     Document Type: Article
Times cited : (24)

References (13)
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    • Pfeiffer, R.A.1
  • 2
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    • Pfeiffer syndrome update: Clinical subtypes and guidelines for differential diagnosis
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    • Cohen Jr., M.M.1
  • 3
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    • Mild expression of the Pfeiffer syndrome
    • Rasmussen, S. A. and Frias, J. L. (1988). Mild expression of the Pfeiffer syndrome. Clin. Genet., 33, 5-10
    • (1988) Clin. Genet. , vol.33 , pp. 5-10
    • Rasmussen, S.A.1    Frias, J.L.2
  • 4
    • 0029132035 scopus 로고
    • Fibroblast growth factor receptor mutations in human skeletal disorders
    • Muencke, M. and Schell, U. (1995). Fibroblast growth factor receptor mutations in human skeletal disorders. Trends Genet., 11, 308-13
    • (1995) Trends Genet. , vol.11 , pp. 308-313
    • Muencke, M.1    Schell, U.2
  • 5
    • 0028046606 scopus 로고
    • A common mutation in the fibroblast growth factor receptor-1 gene in Pfeiffer syndrome
    • Muencke, M., Schell, U., Hehr, A. et al. (1995). A common mutation in the fibroblast growth factor receptor-1 gene in Pfeiffer syndrome. Nature Genet., 8, 269-74
    • (1995) Nature Genet. , vol.8 , pp. 269-274
    • Muencke, M.1    Schell, U.2    Hehr, A.3
  • 6
    • 0028930046 scopus 로고
    • Mutations in FGFR1 and FGFR2 cause Pfieffer syndrome
    • Schell, U., Hehr, A., Feldman, G. J. et al. (1995). Mutations in FGFR1 and FGFR2 cause Pfieffer syndrome. Hum. Mol. Genet., 3, 323-8
    • (1995) Hum. Mol. Genet. , vol.3 , pp. 323-328
    • Schell, U.1    Hehr, A.2    Feldman, G.J.3
  • 7
    • 26844556436 scopus 로고
    • Craniosynostosis, kleeblattschadel type
    • Buyse, M. L. (ed.) Cambridge, MA: Blackwell Scientific
    • Hall, J. G. (1990). Craniosynostosis, kleeblattschadel type. In Buyse, M. L. (ed.) Birth Defects Encyclopedia, p. 465. (Cambridge, MA: Blackwell Scientific)
    • (1990) Birth Defects Encyclopedia , pp. 465
    • Hall, J.G.1
  • 9
    • 0018603873 scopus 로고
    • Sonographic in-utero appearance of Kleeblattschaedel syndrome
    • Brahman, S., Jenna, R. and Wittenauer, H. J. (1979). Sonographic in-utero appearance of Kleeblattschaedel syndrome. Clin. Ultrasound, 7, 481-4
    • (1979) Clin. Ultrasound , vol.7 , pp. 481-484
    • Brahman, S.1    Jenna, R.2    Wittenauer, H.J.3
  • 10
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    • Sonographic diagnosis of thanatophoric dwarfism in utero
    • Fink, I. J., Filly, R. A., Callen, P. W. et al. (1982). Sonographic diagnosis of thanatophoric dwarfism in utero. J. Ultrasound Med., 1, 337
    • (1982) J. Ultrasound Med. , vol.1 , pp. 337
    • Fink, I.J.1    Filly, R.A.2    Callen, P.W.3
  • 11
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    • The significance of the kleeblattschaedel malformation
    • Stevenson, R. E. and Saul, R. A. (1986). The significance of the kleeblattschaedel malformation. Proc. Greenwood Genet. Center, 5, 76
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  • 12
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  • 13
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    • Craniofacial syndromes: No such thing as a single gene disease
    • Mulvihill, J. J. (1995). Craniofacial syndromes: no such thing as a single gene disease. Nature Genet., 9, 101-3
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    • Mulvihill, J.J.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.