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Volumn 152, Issue 11, 2010, Pages 2711-2713

Elbow deformities in a patient with mandibuloacral dysplasia type A

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICULAR CARTILAGE; BONE DENSITY; BONE EROSION; CASE REPORT; DEFORMITY; DUAL ENERGY X RAY ABSORPTIOMETRY; DYSPLASIA; ELBOW MALFORMATION; GENE; HUMAN; HYPEROSTOSIS; LABORATORY TEST; LETTER; LMNA GENE; MALE; MANDIBULOACRAL DYSPLASIA; MISSENSE MUTATION; OSTEOLYSIS; PRIORITY JOURNAL; RADIOGRAPHY;

EID: 78049272431     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33700     Document Type: Letter
Times cited : (8)

References (12)
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    • Focal segmental glomerulosclerosis in patients with mandibuloacral dysplasia due to zinc metalloproteinase deficiency
    • Agarwal AK, Zhou XJ, Hall RK, Nicholls K, Bankier A, Van Esch H, Fryns J-P, Garg A. 2006. Focal segmental glomerulosclerosis in patients with mandibuloacral dysplasia due to zinc metalloproteinase deficiency. J Invest Med 54: 208-213.
    • (2006) J Invest Med , vol.54 , pp. 208-213
    • Agarwal, A.K.1    Zhou, X.J.2    Hall, R.K.3    Nicholls, K.4    Bankier, A.5    Van Esch, H.6    Fryns, J.7    Garg, A.8
  • 3
    • 33845269544 scopus 로고    scopus 로고
    • Hutchinson-Gilford Progeria syndrome: Review of the phenotype
    • Hennekam RCM. 2006. Hutchinson-Gilford Progeria syndrome: Review of the phenotype. Am J Med Genet Part A 140A: 2603-2624.
    • (2006) Am J Med Genet Part A , vol.140 , pp. 2603-2624
    • Hennekam, R.C.M.1
  • 8
    • 0014216624 scopus 로고
    • Su un nucleo familiare di progeria
    • Rava G. 1967. Su un nucleo familiare di progeria. Minerva Med 58: 1502-1509.
    • (1967) Minerva Med , vol.58 , pp. 1502-1509
    • Rava, G.1
  • 10
    • 0036171687 scopus 로고    scopus 로고
    • Body fat distribution and metabolic derangements in patients with familial partial lipodystrophy associated with mandibuloacral dysplasia
    • Simha V, Garg A. 2002. Body fat distribution and metabolic derangements in patients with familial partial lipodystrophy associated with mandibuloacral dysplasia. J Clin Endocrinol Metab 87: 776-785.
    • (2002) J Clin Endocrinol Metab , vol.87 , pp. 776-785
    • Simha, V.1    Garg, A.2
  • 11
    • 0037564014 scopus 로고    scopus 로고
    • Genetic and phenotypic heterogeneity in patients with mandibuloacral dysplasia-associated lipodystrophy
    • Simha V, Agarwal AK, Oral EA, Fryns JP, Garg A. 2003. Genetic and phenotypic heterogeneity in patients with mandibuloacral dysplasia-associated lipodystrophy. J Clin Endocrinol Metab 88: 2821-2824.
    • (2003) J Clin Endocrinol Metab , vol.88 , pp. 2821-2824
    • Simha, V.1    Agarwal, A.K.2    Oral, E.A.3    Fryns, J.P.4    Garg, A.5
  • 12
    • 68849119046 scopus 로고    scopus 로고
    • Laminopathies and the long strange trip from basic cell biology to therapy
    • Worman HJ, Fong LG, Muchir A, Young SG. 2009. Laminopathies and the long strange trip from basic cell biology to therapy. J Clin Invest 119: 1825-1836.
    • (2009) J Clin Invest , vol.119 , pp. 1825-1836
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.