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Volumn 131 A, Issue 1, 2004, Pages 103-105

46,XY sex-reversal (Swyer syndrome) and congenital diaphragmatic hernia [3]

Author keywords

[No Author keywords available]

Indexed keywords

CASE REPORT; CLINICAL FEATURE; CONGENITAL DIAPHRAGM HERNIA; ECHOGRAPHY; FEMALE; FEMALE GENITAL SYSTEM; GONADAL DYSGENESIS; HUMAN; INFANT; KARYOTYPE 46,XY; LAPAROTOMY; LETTER; PRIORITY JOURNAL; TESTIS;

EID: 7244223425     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30298     Document Type: Letter
Times cited : (9)

References (19)
  • 1
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    • (1993) Hum Mol Genet , vol.2 , pp. 785-789
    • Affara, N.A.1    Chalmers, I.J.2    Ferguson-Smith, M.A.3
  • 4
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    • Genetics of XY sex reversal
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    • Hawkins, J.R.1
  • 7
    • 0026509497 scopus 로고
    • Phenotypically normal girl with male pseudohermaphroditism, hyoplastic left ventricle, lung aplasia, horseshoe kidney, and diaphragmatic hernia
    • Maaswinkel-Mooij PD, Stokvis-Branstma WH. 1992. Phenotypically normal girl with male pseudohermaphroditism, hyoplastic left ventricle, lung aplasia, horseshoe kidney, and diaphragmatic hernia. Am J Med Genet 42:647-648.
    • (1992) Am J Med Genet , vol.42 , pp. 647-648
    • Maaswinkel-Mooij, P.D.1    Stokvis-Branstma, W.H.2
  • 9
    • 0033616220 scopus 로고    scopus 로고
    • Sex determination and the Y chromosome
    • McElreavey K, Fellous M. 1999. Sex determination and the Y chromosome. Am J Med Genet 89:176-185.
    • (1999) Am J Med Genet , vol.89 , pp. 176-185
    • McElreavey, K.1    Fellous, M.2
  • 10
    • 0025840371 scopus 로고
    • Double vagina, cardiac, pulmonary, and other genital malformations with 46,XY karyotype
    • Meacham LR, Winn KJ, Culler FL, Parks JS. 1991. Double vagina, cardiac, pulmonary, and other genital malformations with 46,XY karyotype. Am J Med Genet 15:478-481.
    • (1991) Am J Med Genet , vol.15 , pp. 478-481
    • Meacham, L.R.1    Winn, K.J.2    Culler, F.L.3    Parks, J.S.4
  • 11
    • 0008992492 scopus 로고
    • Ambiguous genitalia and hermaphroditism
    • Boston: Blackwell Scientific
    • Robinson A, Linden MG. 1993. Ambiguous genitalia and hermaphroditism. In: Clinical genetics handbook. 2nd edn. Boston: Blackwell Scientific. pp 309-315.
    • (1993) Clinical Genetics Handbook. 2nd Edn. , pp. 309-315
    • Robinson, A.1    Linden, M.G.2
  • 13
    • 0034454214 scopus 로고    scopus 로고
    • Clinical review 111: Familial sex reversal: A review
    • Sarafoglou K, Ostrer H. 2000. Clinical review 111: Familial sex reversal: A review. J Clin Endocrinol Metab 85:483-493.
    • (2000) J Clin Endocrinol Metab , vol.85 , pp. 483-493
    • Sarafoglou, K.1    Ostrer, H.2
  • 14
    • 0036367096 scopus 로고    scopus 로고
    • The molecular genetic jigsaw puzzle of vertebrate sex determination and its missing pieces
    • Scherer G. 2002. The molecular genetic jigsaw puzzle of vertebrate sex determination and its missing pieces. Novartis Found Symp 244:225-236.
    • (2002) Novartis Found Symp , vol.244 , pp. 225-236
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  • 15
    • 0030828763 scopus 로고    scopus 로고
    • Abnormal XY interchange between a novel isolated protein kinase gene, PRKY, and its homologue, PRKX, accounts for one third of all (Y+)XX males and (Y-)XY females
    • Schiebel K, Winkelmann M, Mertz A, Xu X, Page DC, Weil D, Petit C, Rappold GA. 1997. Abnormal XY interchange between a novel isolated protein kinase gene, PRKY, and its homologue, PRKX, accounts for one third of all (Y+)XX males and (Y-)XY females. Hum Mol Genet 6:1985-1989.
    • (1997) Hum Mol Genet , vol.6 , pp. 1985-1989
    • Schiebel, K.1    Winkelmann, M.2    Mertz, A.3    Xu, X.4    Page, D.C.5    Weil, D.6    Petit, C.7    Rappold, G.A.8
  • 16
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  • 18
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  • 19
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.