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Volumn 124 A, Issue 1, 2004, Pages 102-104

Facial Phenotype Allows Diagnosis of Mowat-Wilson Syndrome in the Absence of Hirschsprung Disease [3]

Author keywords

[No Author keywords available]

Indexed keywords

CASE REPORT; CHROMOSOME 22Q; FACE; FEMALE; GENE DELETION; GENE MUTATION; HIRSCHSPRUNG DISEASE; HUMAN; LETTER; MALE; MENTAL RETARDATION MALFORMATION SYNDROME; MOWAT WILSON SYNDROME; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SEQUENCE ANALYSIS;

EID: 0942287850     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Letter
Times cited : (23)

References (7)
  • 4
    • 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, Kerr BA, Chaitow J, Adès LC, Chia NL, Wilson MJ. 1998. 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 35:617-623.
    • (1998) J Med Genet , vol.35 , pp. 617-623
    • Mowat, D.R.1    Croaker, G.D.H.2    Cass, D.T.3    Kerr, B.A.4    Chaitow, J.5    Adès, L.C.6    Chia, N.L.7    Wilson, M.J.8
  • 7
    • 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 homeo box 1B gene
    • Zweier C, Albrecht B, Mitulla B, Behrens R, Beese M, Gillessen-Kaesbach G, Rott HD, Rauch A. 2002. "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 homeo box 1B gene. Am J Med Genet 108:177-181.
    • (2002) Am J Med Genet , vol.108 , pp. 177-181
    • Zweier, C.1    Albrecht, B.2    Mitulla, B.3    Behrens, R.4    Beese, M.5    Gillessen-Kaesbach, G.6    Rott, H.D.7    Rauch, A.8


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.