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Volumn 34, Issue 3, 1989, Pages 397-400

Re-evaluation of new X-linked syndrome for evidence of CHARGE syndrome or association

Author keywords

[No Author keywords available]

Indexed keywords

CASE REPORT; CLEFT PALATE; COLOBOMA; FEMALE; HEREDITY; HUMAN; HYPOSPADIAS; MALE; MALFORMATION SYNDROME; PRIORITY JOURNAL; SYNDROME CHARGE; SYNOSTOSIS;

EID: 0024824280     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.1320340315     Document Type: Article
Times cited : (13)

References (17)
  • 1
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    • Case report: A new syndrome of cleft palate associated with coloboma, hypospadias, deafness, short stature, and radial synostosis
    • Abruzzo MA, Erickson RP (1977): Case report: A new syndrome of cleft palate associated with coloboma, hypospadias, deafness, short stature, and radial synostosis. J Med Genet 14: 76–80.
    • (1977) J Med Genet , vol.14 , pp. 76-80
    • Abruzzo, MA1    Erickson, RP2
  • 2
    • 0020955890 scopus 로고
    • Hypopituitarism and the CHARGE association
    • August GP, Rosenbaum KN, Friendly D, Hung W (1983): Hypopituitarism and the CHARGE association. J Pediatr 103: 424–425.
    • (1983) J Pediatr , vol.103 , pp. 424-425
    • August, GP1    Rosenbaum, KN2    Friendly, D3    Hung, W4
  • 3
    • 0023113595 scopus 로고
    • Spectrum of congenital heart disease in CHARGE association
    • Cyran SE, Martinez R, Daniels S, Dignan PSJ, Kaplan S (1987): Spectrum of congenital heart disease in CHARGE association. J Pediatr 110: 576–577.
    • (1987) J Pediatr , vol.110 , pp. 576-577
    • Cyran, SE1    Martinez, R2    Daniels, S3    Dignan, PSJ4    Kaplan, S5
  • 5
    • 0017165907 scopus 로고
    • Bilateral microcornea, coloboma, short stature and other skeletal anomalies‐a new hereditary syndrome
    • Dinno ND, Lawwill T, Leggett AE, Shearer L, Weisskopf B (1976): Bilateral microcornea, coloboma, short stature and other skeletal anomalies‐a new hereditary syndrome. Birth Defects Orig Art Ser 12: 109–114.
    • (1976) Birth Defects Orig Art Ser , vol.12 , pp. 109-114
    • Dinno, ND1    Lawwill, T2    Leggett, AE3    Shearer, L4    Weisskopf, B5
  • 6
    • 0015065343 scopus 로고
    • X‐linked colobomatous micropthalmos and other congenital anomalies A disorder resembling Lenz's dysmorphogenic syndrome
    • Goldberg MF, McKusick VA (1971): X‐linked colobomatous micropthalmos and other congenital anomalies A disorder resembling Lenz's dysmorphogenic syndrome. Am J Ophthal 71: 1128–1133.
    • (1971) Am J Ophthal , vol.71 , pp. 1128-1133
    • Goldberg, MF1    McKusick, VA2
  • 7
    • 0019478650 scopus 로고
    • Brief clinical report: Coloboma hypospadias
    • Halal F, Farsky K (1981): Brief clinical report: Coloboma hypospadias. Am J Med Genet 8: 53–57.
    • (1981) Am J Med Genet , vol.8 , pp. 53-57
    • Halal, F1    Farsky, K2
  • 8
    • 0018348787 scopus 로고
    • Choanal atresia and associated multiple anomalies
    • Hall BD (1979): Choanal atresia and associated multiple anomalies. J Pediatr 95: 395–398.
    • (1979) J Pediatr , vol.95 , pp. 395-398
    • Hall, BD1
  • 9
    • 0020440545 scopus 로고
    • An autosomal dominant syndrome of uveal colobomata, cleft lip and palate, and mental retardation
    • Kingston HM, Harper PS, Jones PW (1982): An autosomal dominant syndrome of uveal colobomata, cleft lip and palate, and mental retardation. J Med Genet 19: 444–446.
    • (1982) J Med Genet , vol.19 , pp. 444-446
    • Kingston, HM1    Harper, PS2    Jones, PW3
  • 10
    • 0023158547 scopus 로고
    • Familial CHARGE syndrome: Clinical report with autopsy findings
    • Metlay LA, Smythe PS, Miller ME (1987): Familial CHARGE syndrome: Clinical report with autopsy findings. Am J Med Genet 26: 577–581.
    • (1987) Am J Med Genet , vol.26 , pp. 577-581
    • Metlay, LA1    Smythe, PS2    Miller, ME3
  • 11
    • 0022392079 scopus 로고
    • Use of an expert model to test diagnostic criteria in CHARGE syndrome
    • Mitchell JA, Davenport SLH, Hefner MA, Shei MM (1985a): Use of an expert model to test diagnostic criteria in CHARGE syndrome. J Med Syst 9: 425–436.
    • (1985) J Med Syst , vol.9 , pp. 425-436
    • Mitchell, JA1    Davenport, SLH2    Hefner, MA3    Shei, MM4
  • 13
    • 0019425377 scopus 로고
    • Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association
    • Pagon RA, Graham JM Jr, Zonana J, Yong S (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
    • Pagon, RA1    Graham, JM2    Zonana, J3    Yong, S4
  • 14
    • 9044248372 scopus 로고
    • Letter to the editor: A reply from Dr Shprintzen
    • Shprintzen RJ (1987): Letter to the editor: A reply from Dr Shprintzen. Am J Med Genet 28: 753–755.
    • (1987) Am J Med Genet , vol.28 , pp. 753-755
    • Shprintzen, RJ1
  • 15
    • 0017821181 scopus 로고
    • A new syndrome involving cleft palate, cardiac anomalies, and learning disabilities: Velo‐cardiofacial syndrome
    • Shprintzen RJ, Goldberg RB, Lewin ML, Sidoti EJ, Berkman MD, Argamaso RV, Young D (1978): A new syndrome involving cleft palate, cardiac anomalies, and learning disabilities: Velo‐cardiofacial syndrome. Cleft Palate J 15: 56–62.
    • (1978) Cleft Palate J , vol.15 , pp. 56-62
    • Shprintzen, RJ1    Goldberg, RB2    Lewin, ML3    Sidoti, EJ4    Berkman, MD5    Argamaso, RV6    Young, D7
  • 16
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    • Pathologic features of the CHARGE association: Support for involvement of the neural crest
    • Siebert JR, Graham JR, MacDonald C (1985): Pathologic features of the CHARGE association: Support for involvement of the neural crest. Teratology 31: 331–336.
    • (1985) Teratology , vol.31 , pp. 331-336
    • Siebert, JR1    Graham, JR2    MacDonald, C3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.