Severe clinical course of Hirschsprung disease in a Mowat-Wilson syndrome patient

Journal of Applied Genetics

Volumn 51, Issue 1, 2010, Pages 111-113

  Smigiel, R ^a   Szafranska, A ^a   Czyzewska, M ^a   Rauch, A ^b   Zweier, C ^b   Patkowski, D ^a  

^a WROCLAW MEDICAL UNIVERSITY   (Poland)

^b UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

Author keywords

Genotype phenotype correlation; Hirschsprung disease; Mowat wilson syndrome; ZEB2 gene; ZFHX1B gene

Indexed keywords

EID: 76649113394     PISSN: 12341983     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF03195718     Document Type: Article

References (9)

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7. Zweier C, Albrecht B, Mitulla B, Behrens R, Beese M, Gillessen-Kaesbach G, et al. 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. 108: 177-181.
8. Zweier C, Temple IK, Beemer F, Zackai E, Lerman Sagie T, Weschke B, et al. 2003. Characterisation of deletions of the ZFHX1B region and genotype-phenotype analysis in Mowat-Wilson syndrome. J Med Genet 40: 601-605.
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