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Volumn 138 A, Issue 4, 2005, Pages 389-391

Medial temporal lobe dysgenesis in hypochondroplasia

Author keywords

Achondroplasia; FGFR3; Neuroimaging; Thanatophoric dysplasia

Indexed keywords

ASPARAGINE; LYSINE;

EID: 27444431584     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30974     Document Type: Article
Times cited : (17)

References (10)
  • 3
    • 0035892809 scopus 로고    scopus 로고
    • Occurrence of thanatophoric dysplasia type I (R248C) and hypochondroplasia (N540K) mutations in two patients with achondroplasia phenotype
    • Camera G, Baldi M, Strisciuglio G, Concolino D, Mastroiacovo P, Baffico M. 2001. Occurrence of thanatophoric dysplasia type I (R248C) and hypochondroplasia (N540K) mutations in two patients with achondroplasia phenotype. Am J Med Genet 104:277-281.
    • (2001) Am J Med Genet , vol.104 , pp. 277-281
    • Camera, G.1    Baldi, M.2    Strisciuglio, G.3    Concolino, D.4    Mastroiacovo, P.5    Baffico, M.6
  • 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
  • 7
    • 0036107991 scopus 로고    scopus 로고
    • Prenatal diagnosis of partial agenesis of the corpus callosum in a fetus with thanatophoric dysplasia type 2
    • Kalache KD, Lehmann K, Chaoui R, Kivelitz DE, Mundlos S, Bollmann R. 2002. Prenatal diagnosis of partial agenesis of the corpus callosum in a fetus with thanatophoric dysplasia type 2. Prenat Diagn 22:404-407.
    • (2002) Prenat Diagn , vol.22 , pp. 404-407
    • Kalache, K.D.1    Lehmann, K.2    Chaoui, R.3    Kivelitz, D.E.4    Mundlos, S.5    Bollmann, R.6
  • 8
    • 0141743582 scopus 로고    scopus 로고
    • Anterior temporal changes on MR images of children with hippocampal sclerosis: An effect of seizures on the immature brain?
    • Mitchell A, Harvey S, Coleman L, Mandelstam S, Jackson G. 2003. Anterior Temporal Changes on MR Images of Children with Hippocampal Sclerosis: An Effect of Seizures on the Immature Brain? AJNR. Am J Neuroradiol 24:1670-1677.
    • (2003) AJNR. Am J Neuroradiol , vol.24 , pp. 1670-1677
    • Mitchell, A.1    Harvey, S.2    Coleman, L.3    Mandelstam, S.4    Jackson, G.5
  • 10
    • 0034784148 scopus 로고    scopus 로고
    • Autopsy case of thanatophoric dysplasia: Observations on the serial sections of the brain
    • Yamaguchi K, Honma K. 2001. Autopsy case of thanatophoric dysplasia: Observations on the serial sections of the brain. Neuropathology 21:222-228.
    • (2001) Neuropathology , vol.21 , pp. 222-228
    • Yamaguchi, K.1    Honma, K.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.