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Volumn 140, Issue 14, 2006, Pages 1564-1566

A newborn with anophthalmia and pulmonary hypoplasia (the Matthew-Wood syndrome)

Author keywords

Anophthalmia; Eye; Hypoplasia; Lung; Malformation

Indexed keywords

ANOPHTHALMIA; ARTICLE; CASE REPORT; CHROMOSOME 2P; CLINICAL FEATURE; FEMALE; GENE; GENE MUTATION; HUMAN; HUMAN TISSUE; LUNG HYPOPLASIA; MATTHEW WOOD SYNDROME; NEWBORN; PRIORITY JOURNAL; RARE DISEASE; SOX2 GENE; SYNDROME DELINEATION;

EID: 33745622451     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31298     Document Type: Article
Times cited : (10)

References (9)
  • 1
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    • Pulmonary Agenesis, microphthalmia, and diaphragmatic defect (PMD): New syndrome or association
    • Berkenstadt M, Lev D, Achiron R, Rosner M, Barkai G. 1999. Pulmonary Agenesis, microphthalmia, and diaphragmatic defect (PMD): New syndrome or association. Am J Med Genet 86:6-8.
    • (1999) Am J Med Genet , vol.86 , pp. 6-8
    • Berkenstadt, M.1    Lev, D.2    Achiron, R.3    Rosner, M.4    Barkai, G.5
  • 4
    • 2442689461 scopus 로고    scopus 로고
    • Pulmonary Agenesis/hypoplasia, microphthalmia, and diaphragmatic defects: Report of an additional case
    • Priolo M, Casile G, Lagana C. 2004. Pulmonary Agenesis/hypoplasia, microphthalmia, and diaphragmatic defects: Report of an additional case. Clin Dysmorphol 13:45-46.
    • (2004) Clin Dysmorphol , vol.13 , pp. 45-46
    • Priolo, M.1    Casile, G.2    Lagana, C.3
  • 6
    • 0019162396 scopus 로고
    • Agenesis of the lung associated with a chromosome abnormality (46, XX, 2p+)
    • Say B, Carpenter NJ, Giacoia G, Jegathesan S. 1980. Agenesis of the lung associated with a chromosome abnormality (46, XX, 2p+). J Med Genet 17:477-478.
    • (1980) J Med Genet , vol.17 , pp. 477-478
    • Say, B.1    Carpenter, N.J.2    Giacoia, G.3    Jegathesan, S.4
  • 8
    • 0023507099 scopus 로고
    • Bilateral pulmonary agenesis and microphthalmia
    • Spear GS, Yetur P, Beyerlein RA. 1987. Bilateral pulmonary agenesis and microphthalmia. Am J Med Genet 3:379-382.
    • (1987) Am J Med Genet , vol.3 , pp. 379-382
    • Spear, G.S.1    Yetur, P.2    Beyerlein, R.A.3
  • 9
    • 0026802070 scopus 로고
    • Autosomal dominant congenital cataract and microphthalmia associated with a familiar t(2;16) translocation
    • Yokoyama Y, Narahara K, Tsuji K, Ninomiya S, Seino Y. 1992. Autosomal dominant congenital cataract and microphthalmia associated with a familiar t(2;16) translocation. Hum Genet 90:177-178.
    • (1992) Hum Genet , vol.90 , pp. 177-178
    • Yokoyama, Y.1    Narahara, K.2    Tsuji, K.3    Ninomiya, S.4    Seino, Y.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.