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Volumn 52, Issue 6, 2009, Pages 450-453

De novo 9 Mb deletion of 6q23.2q24.1 disrupting the gene EYA4 in a patient with sensorineural hearing loss, cardiac malformation, and mental retardation

Author keywords

Breakpoint sequence; EYA4; Interstitial deletion 6q; Microcephaly; Patent ductus arteriosus; Sensorineural hearing loss

Indexed keywords

EYA4 PROTEIN; PROTEIN; UNCLASSIFIED DRUG;

EID: 70350617806     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2009.06.004     Document Type: Article
Times cited : (11)

References (8)
  • 1
    • 0023182545 scopus 로고
    • A child with partial monosomy 6q secondary to a maternal direct insertional event
    • Matkins S.V., Meyer J.E., and Berry A.C. A child with partial monosomy 6q secondary to a maternal direct insertional event. J. Med. Genet. 24 (1987) 227-229
    • (1987) J. Med. Genet. , vol.24 , pp. 227-229
    • Matkins, S.V.1    Meyer, J.E.2    Berry, A.C.3
  • 2
    • 0032854259 scopus 로고    scopus 로고
    • Molecular cytogenetics of a de novo interstitial deletion of chromosome arm 6q in a developmentally normal girl
    • Kumar A., Cassidy S.B., Romero L., and Schwartz S. Molecular cytogenetics of a de novo interstitial deletion of chromosome arm 6q in a developmentally normal girl. Am. J. Med. Genet. 86 (1999) 227-231
    • (1999) Am. J. Med. Genet. , vol.86 , pp. 227-231
    • Kumar, A.1    Cassidy, S.B.2    Romero, L.3    Schwartz, S.4
  • 3
    • 0026005051 scopus 로고
    • Prune-belly anomaly and large interstitial deletion of the long arm of chromosome 6
    • Fryns J.P., Vandenberghe K., and Van den Berghe H. Prune-belly anomaly and large interstitial deletion of the long arm of chromosome 6. Ann. Genet. 34 (1991) 127
    • (1991) Ann. Genet. , vol.34 , pp. 127
    • Fryns, J.P.1    Vandenberghe, K.2    Van den Berghe, H.3
  • 8
    • 22144474444 scopus 로고    scopus 로고
    • Chi: a little sequence controls a big enzyme
    • Stahl F.W. Chi: a little sequence controls a big enzyme. Genetics 170 (2005) 487-493
    • (2005) Genetics , vol.170 , pp. 487-493
    • Stahl, F.W.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.