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Pediatric Radiology
Volumn 29, Issue 11, 1999, Pages 842-845
Blomstrand chondrodysplasia: A lethal sclerosing skeletal dysplasia. Case report and review
Author keywords

[No Author keywords available]
Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BONE DYSPLASIA; BONE MATURATION; CASE REPORT; CHONDRODYSPLASIA; CLINICAL FEATURE; FEMALE; FETUS; HUMAN; OSTEOSCLEROSIS; PATHOLOGICAL ANATOMY; PRIORITY JOURNAL; RADIOGRAPHY; STILLBIRTH;
EID: 0344562942     PISSN: 03010449     EISSN: None     Source Type: Journal    
DOI: 10.1007/s002470050709     Document Type: Article
Times cited : (13)
References (9)
  • 1
    • 0022000808 scopus 로고
    • A case of lethal congenital dwarfism with accelerated skeletal maturation
    • Blomstrand S, Claesson I, Save-Soderbergh J (1985) A case of lethal congenital dwarfism with accelerated skeletal maturation. Pediatr Radiol 15: 141-143
    • (1985) Pediatr Radiol , vol.15 , pp. 141-143
    • Blomstrand, S.1    Claesson, I.2    Save-Soderbergh, J.3
  • 2
    • 0025363375 scopus 로고
    • The lethal osteochondrodysplasias
    • Harris H, Hirschhorn K (eds) Plenum Press, New York
    • Spranger J, Maroteaux P (1990) The lethal osteochondrodysplasias. In: Harris H, Hirschhorn K (eds) Advances in human genetics. Plenum Press, New York, pp 1-103
    • (1990) Advances in Human Genetics , pp. 1-103
    • Spranger, J.1    Maroteaux, P.2
  • 3
    • 0027461508 scopus 로고
    • A lethal skeletal dysplasia with generalized sclerosis and advanced skeletal maturation: Blomstrand chondrodysplasia?
    • Young ID, Zuccollo JM, Broderick NJ (1993) A lethal skeletal dysplasia with generalized sclerosis and advanced skeletal maturation: Blomstrand chondrodysplasia? J Med Genet 30: 155-157
    • (1993) J Med Genet , vol.30 , pp. 155-157
    • Young, I.D.1    Zuccollo, J.M.2    Broderick, N.J.3
  • 5
    • 0030838942 scopus 로고    scopus 로고
    • Familial Blomstrand chondrodysplasia with advanced skeletal maturation: Further delineation
    • Loshkajian A, Roume J, Stanescu V, et al (1997) Familial Blomstrand chondrodysplasia with advanced skeletal maturation: further delineation. Am J Med Genet 71: 283-288
    • (1997) Am J Med Genet , vol.71 , pp. 283-288
    • Loshkajian, A.1    Roume, J.2    Stanescu, V.3
  • 6
    • 0026768675 scopus 로고
    • International classification of osteochondrodysplasias
    • International Working Group on Constitutional Diseases of Bone (1992) International classification of osteochondrodysplasias. Am J Med Genet 44: 223-229
    • (1992) Am J Med Genet , vol.44 , pp. 223-229
  • 7
    • 0032128253 scopus 로고    scopus 로고
    • Absence of functional receptors for parathyroid hormone and parathyroid hormone-related peptide in Blomstrand chondrodysplasia
    • Jobert AS, Zhang P, Couvineau A (1998) Absence of functional receptors for parathyroid hormone and parathyroid hormone-related peptide in Blomstrand chondrodysplasia. J Clin Invest 102: 34-40
    • (1998) J Clin Invest , vol.102 , pp. 34-40
    • Jobert, A.S.1    Zhang, P.2    Couvineau, A.3
  • 8
    • 0031769483 scopus 로고    scopus 로고
    • A homozygous inactivating mutation in the parathyroid hormone/parathyroid hormone-related peptide receptor causing Blomstrand chondrodysplasia
    • Zhang P, Jobert AS, Couvineau A, et al (1998) A homozygous inactivating mutation in the parathyroid hormone/parathyroid hormone-related peptide receptor causing Blomstrand chondrodysplasia. J Clin Endocrinol Metab 83: 3365-3368
    • (1998) J Clin Endocrinol Metab , vol.83 , pp. 3365-3368
    • Zhang, P.1    Jobert, A.S.2    Couvineau, A.3
  • 9
    • 0031725947 scopus 로고    scopus 로고
    • Inactivating mutation in the parathyroid hormone receptor type 1 gene in Blomstrand chondrodysplasia
    • Karaplis AC, He B, Nguyen MT, et al (1998) Inactivating mutation in the parathyroid hormone receptor type 1 gene in Blomstrand chondrodysplasia. Endocrinology 139: 5255-5258
    • (1998) Endocrinology , vol.139 , pp. 5255-5258
    • Karaplis, A.C.1    He, B.2    Nguyen, M.T.3

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.