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Volumn 66, Issue 3, 1996, Pages 265-268

Autosomal recessive severe dwarfism in a sicilian girl: A new form of osteodysplastic primordial dwarfism?

Author keywords

autosomal recessive inheritance; growth retardation; osteodysplastic primordial dwarfism

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BONE DYSPLASIA; CASE REPORT; CLINICAL FEATURE; DWARFISM; FEMALE; GROWTH RETARDATION; HUMAN; HUMAN CELL; HUMAN TISSUE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SKELETON MALFORMATION;

EID: 0030443744     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19961218)66:3<265::AID-AJMG5>3.0.CO;2-O     Document Type: Article
Times cited : (4)

References (11)
  • 2
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    • Bondeson J (1992): Caroline Crachami, the Sicilian fairy: A case of bird-headed dwarfism. Am J Med Genet 44:210-219.
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    • Bondeson, J.1
  • 3
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    • Bondeson, J.1
  • 4
    • 0026775890 scopus 로고
    • Caroline Crachami and the delineation of osteodysplastic primordial dwarfism type III, an autosomal recessive syndrome
    • Majewski F (1992): Caroline Crachami and the delineation of osteodysplastic primordial dwarfism type III, an autosomal recessive syndrome. Am J Med Genet 44:203-209.
    • (1992) Am J Med Genet , vol.44 , pp. 203-209
    • Majewski, F.1
  • 5
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    • Uber einen neuen typ des primordialen minderwuchse: Der brachymele primordiale minderwuchs
    • Majewski F, Spranger J (1976): Uber einen neuen typ des primordialen minderwuchse: Der brachymele primordiale minderwuchs. Mschr Kinderheilk 124:499-503.
    • (1976) Mschr Kinderheilk , vol.124 , pp. 499-503
    • Majewski, F.1    Spranger, J.2
  • 6
    • 0020036950 scopus 로고
    • Studies on microcephalic primordial dwarfism II: The osteodysplastic type II of primordial dwarfism
    • Majewski F, Ranke M, Schinzel A (1982a): Studies on microcephalic primordial dwarfism II: The osteodysplastic type II of primordial dwarfism. Am J Med Genet 12:23-35.
    • (1982) Am J Med Genet , vol.12 , pp. 23-35
    • Majewski, F.1    Ranke, M.2    Schinzel, A.3
  • 7
    • 0020083952 scopus 로고
    • Studies of microcephalic primordial dwarfism III: An intrauterine dwarf with platyspondyly and anomalies of pelvis and clavicles-osteodys-plastic primordial dwarfism type III
    • Majewski F, Stoeckenius M, Kemperdick H (1982b): Studies of microcephalic primordial dwarfism III: An intrauterine dwarf with platyspondyly and anomalies of pelvis and clavicles-osteodys-plastic primordial dwarfism type III. Am J Med Genet 12:37-42.
    • (1982) Am J Med Genet , vol.12 , pp. 37-42
    • Majewski, F.1    Stoeckenius, M.2    Kemperdick, H.3
  • 8
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    • Microcephalic osteodysplastic primordial dwarfism type I/III in sibs
    • Meinecke P, Passarge E (1991): Microcephalic osteodysplastic primordial dwarfism type I/III in sibs. J Med Genet 28:795-800.
    • (1991) J Med Genet , vol.28 , pp. 795-800
    • Meinecke, P.1    Passarge, E.2
  • 9
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    • Microcephalic osteodysplastic primordial dwarfism: Further evidence for the identity of the so-called type I and II
    • Meinecke P, Schaefer E, Wiedemann HR (1991): Microcephalic osteodysplastic primordial dwarfism: Further evidence for the identity of the so-called type I and II. Am J Med Genet 39: 232-236.
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  • 11
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    • A new case of the osteodysplastic primordial dwarfism type II
    • Willems PJ, Rouwé C, Smit PA (1987): A new case of the osteodysplastic primordial dwarfism type II. Am J Med Genet 26: 819-824.
    • (1987) Am J Med Genet , vol.26 , pp. 819-824
    • Willems, P.J.1    Rouwé, C.2    Smit, P.A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.