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Volumn 133 A, Issue 3, 2005, Pages 306-308

Updated diagnostic criteria for CHARGE syndrome: A proposal

Author keywords

[No Author keywords available]

Indexed keywords

CHILD; CHOANA ATRESIA; COLOBOMA; CONGENITAL HEART MALFORMATION; EAR MALFORMATION; GENITAL MALFORMATION; GROWTH RETARDATION; HEARING LOSS; HUMAN; HYPOPLASIA; IRIS COLOBOMA; MENTAL RETARDATION MALFORMATION SYNDROME; NOTE; PRIORITY JOURNAL; SEMICIRCULAR CANAL; SYNDROME CHARGE; SYNDROME DELINEATION;

EID: 14344262552     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30559     Document Type: Note
Times cited : (319)

References (18)
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    • Davenport, S.L.1    Hefner, M.A.2    Mitchell, J.A.3
  • 6
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    • Choanal atresia and associated multiple anomalies
    • Hail BD. 1979. Choanal atresia and associated multiple anomalies. J Pediatr 95:395-398.
    • (1979) J Pediatr , vol.95 , pp. 395-398
    • Hail, B.D.1
  • 7
    • 0018350904 scopus 로고
    • Colobomatous microphthalmia, heart disease, hearing loss, and mental retardation-A syndrome
    • Hittner HM, Hirsch NJ, Kreh GM, Rudolph AJ. 1979. Colobomatous microphthalmia, heart disease, hearing loss, and mental retardation-A syndrome. J Pediatr Ophthalmol Strabismus 16:122-128.
    • (1979) J Pediatr Ophthalmol Strabismus , vol.16 , pp. 122-128
    • Hittner, H.M.1    Hirsch, N.J.2    Kreh, G.M.3    Rudolph, A.J.4
  • 8
    • 0024992614 scopus 로고
    • Role of neural crest in congenital heart disease
    • Kirby ML Waldo KL. 1990. Role of neural crest in congenital heart disease. Circulation 82:332-340.
    • (1990) Circulation , vol.82 , pp. 332-340
    • Kirby, M.L.1    Waldo, K.L.2
  • 9
    • 0025081165 scopus 로고
    • Central nervous system malformations in the CHARGE association
    • Lin AE, Siebert JR, Graham JM Jr. 1990. Central nervous system malformations in the CHARGE association. Am J Med Genet 37:304-310.
    • (1990) Am J Med Genet , vol.37 , pp. 304-310
    • Lin, A.E.1    Siebert, J.R.2    Graham Jr., J.M.3
  • 10
    • 0028115695 scopus 로고
    • Properties of associations: Identity, nature, and clinical criteria, with a commentary on why CHARGE and Goldenhar are not associations
    • Lubinsky MS. 1994. Properties of associations: Identity, nature, and clinical criteria, with a commentary on why CHARGE and Goldenhar are not associations. Am J Med Genet 49:21-25.
    • (1994) Am J Med Genet , vol.49 , pp. 21-25
    • Lubinsky, M.S.1
  • 13
    • 0023857059 scopus 로고
    • A reappraisal of the CHARGE association
    • 1988
    • Oley CA, Baraitser M, Grant DB. 1988. A reappraisal of the CHARGE association. J Med Genet 1988; 25:147-157.
    • (1988) J Med Genet , vol.25 , pp. 147-157
    • Oley, C.A.1    Baraitser, M.2    Grant, D.B.3
  • 14
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    • Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association
    • Pagon RA, Graham JM Jr, Zonana JYSL. 1981. Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association. J Pediatr 99:223-227.
    • (1981) J Pediatr , vol.99 , pp. 223-227
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    • Pathologic features of the CHARGE association: Support for involvement of the neural crest
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  • 17
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    • Aspects of temporal bone anatomy and pathology in conjunction with cochlear implant surgery
    • Stjernholm C. 2003. Aspects of temporal bone anatomy and pathology in conjunction with cochlear implant surgery. Acta Radiol Suppl 430:2-15.
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    • Stjernholm, C.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.