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Volumn 50, Issue 1, 2005, Pages 26-29

Genotype-phenotype correlation of 5p- syndrome: Pitfall of diagnosis

Author keywords

5p syndrome; Cat cry syndrome; FISH analysis; Genotype phenotype correlation; Pitfall of diagnosis

Indexed keywords

ADOLESCENT; ARTICLE; CAT CRY SYNDROME; CHILD; CHROMOSOME ANALYSIS; CHROMOSOME DELETION 5; CHROMOSOME MAP; CHROMOSOME TRANSLOCATION; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DIAGNOSTIC ERROR; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MALE; MENTAL DEFICIENCY; PARENT;

EID: 13844264337     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-004-0213-9     Document Type: Article
Times cited : (20)

References (6)
  • 1
    • 0030884218 scopus 로고    scopus 로고
    • A high-resolution physical and transcript map of cri du chat region of human chromosome 5p
    • Church DM, Yang J, Bocian M, Shiang R, Wasmuth JJ (1997) A high-resolution physical and transcript map of cri du chat region of human chromosome 5p. Genome Res 7:787-801
    • (1997) Genome Res , vol.7 , pp. 787-801
    • Church, D.M.1    Yang, J.2    Bocian, M.3    Shiang, R.4    Wasmuth, J.J.5
  • 4
    • 0034009881 scopus 로고    scopus 로고
    • Hemizygosity of delta- Catenin (CTNND2) is associated with severe mental retardation in cri-du-chat syndrome
    • Medina M, Marinescu RC, Overhauser J, Kosik KS (2000) Hemizygosity of delta- catenin (CTNND2) is associated with severe mental retardation in cri-du-chat syndrome. Genomics 63:157-164
    • (2000) Genomics , vol.63 , pp. 157-164
    • Medina, M.1    Marinescu, R.C.2    Overhauser, J.3    Kosik, K.S.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.