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Volumn 117, Issue 7, 2007, Pages 927-933

A Brazilian family with quadrupedal gait, severe mental retardation, coarse facial characteristics, and hirsutism

Author keywords

Autosomal recessive inheritance; Coarse facial characteristics; Consanguinity; Hirsutism; Mental retardation; Quadrupedal Gait

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; COARSE FACE; CONSANGUINITY; FAMILY; FEMALE; GAIT DISORDER; HIRSUTISM; HUMAN; MALE; MENTAL DEFICIENCY; SHORT STATURE; SPEECH; STRABISMUS;

EID: 34347403427     PISSN: 00207454     EISSN: 15635279     Source Type: Journal    
DOI: 10.1080/00207450600910721     Document Type: Article
Times cited : (6)

References (10)
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    • Battaglia, A.1    Orsitto, E.2    Gibilisco, G.3
  • 2
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    • Coffin, G.S.1    Siris, E.2    Wegienka, L.C.3
  • 3
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    • Coffin-Siris syndrome: Review and presentation of new cases from a questionnaire study
    • Fleck, B. J., Pandya, A. Vanner, L. Kerkering, K., & Bodurtha, J. (2001). Coffin-Siris syndrome: review and presentation of new cases from a questionnaire study. Am J Med Genet, 99, 1-7.
    • (2001) Am J Med Genet , vol.99 , pp. 1-7
    • Fleck, B.J.1    Pandya, A.2    Vanner, L.3    Kerkering, K.4    Bodurtha, J.5
  • 5
    • 0036707788 scopus 로고    scopus 로고
    • Coffin-Lowry syndrome: A 20-year follow-up and review of long-term outcomes
    • Hunter, A. G. W. (2002). Coffin-Lowry syndrome: a 20-year follow-up and review of long-term outcomes. Am J Med Genet, 111, 345-355.
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    • Hunter, A.G.W.1
  • 6
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    • A new dominant gene mental retardation sysdrome: Associated with small stature, tapering fingers, characteristic facies, and possible hydrocephalus
    • Lowry, R. B., Miller, J. R., & Fraser, F. C. (1971). A new dominant gene mental retardation sysdrome: associated with small stature, tapering fingers, characteristic facies, and possible hydrocephalus. Am J Dis Child, 121, 496-500.
    • (1971) Am J Dis Child , vol.121 , pp. 496-500
    • Lowry, R.B.1    Miller, J.R.2    Fraser, F.C.3
  • 8
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    • Online Mendelian Inheritance in Man, OMIM, (TM). McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD), 2000.
    • Online Mendelian Inheritance in Man, OMIM, (TM). McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD), 2000.
  • 9
    • 33244476018 scopus 로고    scopus 로고
    • A new syndrome with quadrupedal gait, primitive speech, and severe mental retardation as a live model for human evolution
    • Tan, U. (2006). A new syndrome with quadrupedal gait, primitive speech, and severe mental retardation as a live model for human evolution. Int J Neurosc, 116, 361-369.
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  • 10
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    • Winter, R. M., & Baraitser, M. (2003). The London Dysmorphology Database: A Computerised Database for the Diagnosis of Rare Dysmorphic Syndromes: version 3. Oxford University Press.
    • Winter, R. M., & Baraitser, M. (2003). The London Dysmorphology Database: A Computerised Database for the Diagnosis of Rare Dysmorphic Syndromes: version 3. Oxford University Press.


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.