메뉴 건너뛰기




Volumn 79, Issue 5, 1998, Pages 392-395

Prenatal ultrasonographic description and postnatal pathological findings in atelosteogenesis type 1

Author keywords

Atelosteogenesis type 1; Boomerang dysplasia; Laryngeal hypoplasia; Lethal chondrodysplasia; Vertebral clefts

Indexed keywords

ARTICLE; CASE REPORT; CHONDRODYSPLASIA; CLINICAL FEATURE; FETUS ECHOGRAPHY; GENETIC COUNSELING; GENETIC SCREENING; HUMAN; LUNG HYPOPLASIA; MALE; NEWBORN; OSSIFICATION; PHALANX; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; TRACHEOMALACIA;

EID: 0032511760     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/(sici)1096-8628(19981012)79:5<392::aid-ajmg12>3.0.co;2-m     Document Type: Review
Times cited : (12)

References (11)
  • 1
  • 2
    • 0027428324 scopus 로고
    • Lethal bone dysplasia in a fetus with manifestations of atelosteogenesis I and boomerang dysplasia
    • Greally MT, Jewett T, Smith Jr. WL, Penick, GD, Williamson RA (1993): Lethal bone dysplasia in a fetus with manifestations of atelosteogenesis I and boomerang dysplasia. Am J Med Genet 47:1086-1091.
    • (1993) Am J Med Genet , vol.47 , pp. 1086-1091
    • Greally, M.T.1    Jewett, T.2    Smith Jr., W.L.3    Penick, G.D.4    Williamson, R.A.5
  • 3
    • 0025849669 scopus 로고
    • Atelosteogenesis I and boomerang dysplasia: A question of nosology
    • Hunter AGW, Carpenter BF (1991): Atelosteogenesis I and boomerang dysplasia: A question of nosology. Clin Genet 39:471-480.
    • (1991) Clin Genet , vol.39 , pp. 471-480
    • Hunter, A.G.W.1    Carpenter, B.F.2
  • 6
    • 0019994266 scopus 로고
    • Spondylohumerofemoral hypoplasia (giant cell chondrodysplasia): A neonatally lethal short-limb skeletal dysplasia
    • Sillence DO, Lachman RS, Jenkins T, Riccardi VM, Rimoin DL (1982): Spondylohumerofemoral hypoplasia (giant cell chondrodysplasia): a neonatally lethal short-limb skeletal dysplasia. Am J Med Genet 13:7-14.
    • (1982) Am J Med Genet , vol.13 , pp. 7-14
    • Sillence, D.O.1    Lachman, R.S.2    Jenkins, T.3    Riccardi, V.M.4    Rimoin, D.L.5
  • 8
    • 0028030298 scopus 로고
    • A defect in the metabolic activation of sulfate in a patient with achondrogenesis type IB
    • Superti-Furga A (1994): A defect in the metabolic activation of sulfate in a patient with achondrogenesis type IB. Am J Hum Genet 55:1137-1145.
    • (1994) Am J Hum Genet , vol.55 , pp. 1137-1145
    • Superti-Furga, A.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.