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Volumn 83, Issue 4, 2012, Pages 371-376

Mowat-wilson's syndrome: A case report;Síndrome de mowat-wilson: Caso clínico

Author keywords

Congenital defects; Congenital heart defects; Dominant; Epilepsy; Haplo insufficient; Hirschsprung's disease; Mowat wilson's syndrome

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CONGENITAL MALFORMATION; CONSTIPATION; DIFFERENTIAL DIAGNOSIS; DUCTUS ARTERIOSUS; FACE DEFORMITY; FEMALE; HUMAN; MOWAT WILSON SYNDROME; PSYCHOMOTOR DISORDER; PULMONARY ARTERY STENOSIS; SCHOOL CHILD; SEIZURE; SPEECH DISORDER;

EID: 84869479045     PISSN: 03704106     EISSN: 07176228     Source Type: Journal    
DOI: 10.4067/S0370-41062012000400008     Document Type: Article
Times cited : (3)

References (7)
  • 2
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    • Mowat-Wilson syndrome and mutation in the Zinc Finger Homeo Box 1B Gene: A new syndrome probably under-diagnosed
    • Cerruti-Mainardi P, Garavelli L, Pastore G, et al: Mowat-Wilson syndrome and mutation in the Zinc Finger Homeo Box 1B Gene: a new syndrome probably under-diagnosed. Italian J Pediatr 2005; 31: 116-25.
    • (2005) Italian J Pediatr , vol.31 , pp. 116-125
    • Cerruti-Mainardi, P.1    Garavelli, L.2    Pastore, G.3
  • 4
    • 0037087243 scopus 로고    scopus 로고
    • Mowat-Wilson Syndrome with and without Hirschsprung Disease is a distinct, recognizable Multiple Congenital Anomalies-Mental Retardation Syndrome caused by Mutations in the Zinc finger homeobox 1 B gene (ZFHX1B)
    • Zweier C, Albrecht B, Mitulla B, et al: Mowat-Wilson Syndrome with and without Hirschsprung Disease is a distinct, recognizable Multiple Congenital Anomalies-Mental Retardation Syndrome caused by Mutations in the Zinc finger homeobox 1 B gene (ZFHX1B). Am J Med Genet 2002; 108 (3): 177-81.
    • (2002) Am J Med Genet , vol.108 , Issue.3 , pp. 177-181
    • Zweier, C.1    Albrecht, B.2    Mitulla, B.3
  • 5
    • 0031853185 scopus 로고    scopus 로고
    • Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: Delineation of a new syndrome and identification of a locus at chromosome 2q22-q23
    • Mowat DR, Croaker GDH, Cass DT, et al: Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23. J Med Genet 1998; 35: 617-23.
    • (1998) J Med Genet , vol.35 , pp. 617-623
    • Mowat, D.R.1    Croaker, G.D.H.2    Cass, D.T.3
  • 6
    • 57149091362 scopus 로고    scopus 로고
    • Recurrence of Mowat-Wilson syndrome in sibling with a novel mutation in the ZEB2 gene
    • Cecconi M, Forzano F, Garavelli L, et al: Recurrence of Mowat-Wilson syndrome in sibling with a novel mutation in the ZEB2 gene. Am J Med Genet A 2008; 146A (23): 3095-9.
    • (2008) Am J Med Genet A , vol.146 A , Issue.23 , pp. 3095-3099
    • Cecconi, M.1    Forzano, F.2    Garavelli, L.3
  • 7
    • 21044444074 scopus 로고    scopus 로고
    • Clinical and Mutational Spectrum of Mowat-Wilson Sindrome
    • Zweier C, Thiel CT, Dufke A, et al: Clinical and Mutational Spectrum of Mowat-Wilson Sindrome. Eur J Med Genet 2005; 48: 97-111.
    • (2005) Eur J Med Genet , vol.48 , pp. 97-111
    • Zweier, C.1    Thiel, C.T.2    Dufke, A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.