Mowat-Wilson-syndrom hos tre danske børn

Ugeskrift for Laeger

Volumn 173, Issue 36, 2011, Pages 2199-2200

  Nissen, Karin Bækgaard ^a   Søndergaard, Charlotte ^a   Thelle, Thomas ^b   Møller, Rikke Steensbjerre ^c  

^a HERNING HOSPITAL   (Denmark)

^b VIBORG HOSPITAL   (Denmark)

^c Forskningsenheden Psykiatrisk Center   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

HOMEODOMAIN PROTEIN; REPRESSOR PROTEIN; ZEB2 PROTEIN, HUMAN;

ARTICLE; CASE REPORT; CHILD; DENMARK; FACIES; FEMALE; GENETICS; HIRSCHSPRUNG DISEASE; HUMAN; MALE; MENTAL DEFICIENCY; MICROCEPHALY;

CHILD; DENMARK; FACIES; FEMALE; HIRSCHSPRUNG DISEASE; HOMEODOMAIN PROTEINS; HUMANS; MALE; MENTAL RETARDATION; MICROCEPHALY; REPRESSOR PROTEINS;

EID: 80355145123     PISSN: 00415782     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (5)

1. Mowat DR, Croaker GD, 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.
2. Adam MP, Schelley S, Gallagher R et al. Clinical features and management issues in Mowat-Wilson syndrome. Am J Med Genet A 2006;140:2730-41.
3. Garavelli L, Mainardi PC. Mowat-Wilson syndrome. Orphanet J Rare Dis 2007;2:42-53.
4. Engenheiro E, Møller RS, Pinto M et al. Mowat-Wilson syndrome: an underdiagnosed syndrome? Clin Genet 2008;73:579-84.
5. Bonnard A, Zeidan S, Degas V et al. Outcome af Hirschsprung's disease associated with Mowat-Wilson syndrome. J Ped Surg 2009;44:587-91.