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Volumn 86, Issue 1, 1999, Pages 82-85

Geleophysic dysplasia: 7-Year follow-up study of a patient with an intermediate form

Author keywords

Geleophysic dwarfism; Geleophysic dysplasia; Storage disease

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHILD; FOLLOW UP; GELEOPHYSIC DYSPLASIA; HUMAN; MALE; PRIORITY JOURNAL;

EID: 0032770046     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19990903)86:1<82::AID-AJMG16>3.0.CO;2-O     Document Type: Article
Times cited : (11)

References (13)
  • 1
    • 0029968117 scopus 로고    scopus 로고
    • Acromicric dysplasia and geleophysic dysplasia: Similarities and differences
    • Hennekam RCM, van Bever Y, Oorthuys JWE. 1996. Acromicric dysplasia and geleophysic dysplasia: similarities and differences. Eur J Pediatr 155:311-314.
    • (1996) Eur J Pediatr , vol.155 , pp. 311-314
    • Hennekam, R.C.M.1    Van Bever, Y.2    Oorthuys, J.W.E.3
  • 3
    • 0023513193 scopus 로고
    • Geleophysic dysplasia: Acromicric dysplasia with evidence of glycoprotein storage
    • Lipson AH, Kan AE, Kozlowski K. 1987. Geleophysic dysplasia: acromicric dysplasia with evidence of glycoprotein storage. Am J Med Genet [Suppl] 3:181-189.
    • (1987) Am J Med Genet [Suppl] , vol.3 , pp. 181-189
    • Lipson, A.H.1    Kan, A.E.2    Kozlowski, K.3
  • 5
    • 0030714164 scopus 로고    scopus 로고
    • Expect the worse or hope for the best? Prenatal diagnosis of geleophysic dysplasia
    • Rennie AC, Stewart G, Whiteford M, Johnston T, Tolmie JL. 1997. Expect the worse or hope for the best? prenatal diagnosis of geleophysic dysplasia. Prenat Diagn 17:1067-1070.
    • (1997) Prenat Diagn , vol.17 , pp. 1067-1070
    • Rennie, A.C.1    Stewart, G.2    Whiteford, M.3    Johnston, T.4    Tolmie, J.L.5
  • 6
    • 0029080150 scopus 로고
    • Geleophysic dysplasia: A report of three affected boys: Prenatal ultrasound does not detect recurrence
    • Rosser EM, Wilkinson AR, Hurst JA, McGaughran JM, Donnai D. 1995. Geleophysic dysplasia: a report of three affected boys: prenatal ultrasound does not detect recurrence. Am J Med Genet 58:217-221.
    • (1995) Am J Med Genet , vol.58 , pp. 217-221
    • Rosser, E.M.1    Wilkinson, A.R.2    Hurst, J.A.3    McGaughran, J.M.4    Donnai, D.5
  • 12
    • 0345222808 scopus 로고
    • Mitral stenosis in an atypical case of gargoylism
    • Vanace PW, Friedman S, Wagner BM. 1960. Mitral stenosis in an atypical case of gargoylism. Circulation 21:80-89.
    • (1960) Circulation , vol.21 , pp. 80-89
    • Vanace, P.W.1    Friedman, S.2    Wagner, B.M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.