Microcephaly, mental retardation, and distinct facial features, with or without Hirschsprung disease is an autosomal recessive disorder caused by mutations of the ZEB2 gene. In addition to the dysmorphic features already mentioned urogenital anomalies can be found occasionally.
2. |
Cordelli DM et al. (2013) Epilepsy in Mowat-Wilson syndrome: delineation of the electroclinical phenotype. |
3. |
Evans E et al. (2012) The behavioral phenotype of Mowat-Wilson syndrome. |
4. |
Garavelli L et al. (2009) Mowat-Wilson syndrome: facial phenotype changing with age: study of 19 Italian patients and review of the literature. |
5. |
Cecconi M et al. (2008) Recurrence of Mowat-Wilson syndrome in siblings with a novel mutation in the ZEB2 gene. |
6. |
Engenheiro E et al. (2008) Mowat-Wilson syndrome: an underdiagnosed syndrome? |
7. |
Strenge S et al. (2007) Pulmonary artery sling and congenital tracheal stenosis in another patient with Mowat-Wilson syndrome. |
8. |
Adam MP et al. (2006) Clinical features and management issues in Mowat-Wilson syndrome. |
9. |
Zweier C et al. () Clinical and mutational spectrum of Mowat-Wilson syndrome. |
10. |
Silengo M et al. (2004) Pachygyria and cerebellar hypoplasia in a patient with a 2q22-q23 deletion that includes the ZFHX1B gene. |
11. |
Cerruti Mainardi P et al. (2004) Mowat-Wilson syndrome and mutation in the zinc finger homeo box 1B gene: a well defined clinical entity. |
12. |
Horn D et al. (2004) Facial phenotype allows diagnosis of Mowat-Wilson syndrome in the absence of Hirschsprung disease. |
13. |
Wilson M et al. (2003) Further delineation of the phenotype associated with heterozygous mutations in ZFHX1B. |
14. |
Mowat DR et al. (2003) Mowat-Wilson syndrome. |
15. |
Garavelli L et al. (2003) Hirschsprung disease, mental retardation, characteristic facial features, and mutation in the gene ZFHX1B (SIP1): confirmation of the Mowat-Wilson syndrome. |
16. |
Ohnuma K et al. (1997) Magnetic resonance imaging abnormalities of the brain in Goldberg-Shprintzen syndrome (Hirschsprung disease, microcephaly, and iris coloboma) |
17. |
Hurst JA et al. (1988) Unknown syndrome: Hirschsprung's disease, microcephaly, and iris coloboma: a new syndrome of defective neuronal migration. |
18. |
de Pontual L et al. (2006) Mutations of the RET gene in isolated and syndromic Hirschsprung's disease in human disclose major and modifier alleles at a single locus. |
19. |
Wakamatsu N et al. (2001) Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease. |
20. |
Cacheux V et al. (2001) Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease. |
21. |
Yamada K et al. (2001) Nonsense and frameshift mutations in ZFHX1B, encoding Smad-interacting protein 1, cause a complex developmental disorder with a great variety of clinical features. |
22. |
Amiel J et al. (2001) Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures. |
24. |
Yoneda M et al. (2002) Late infantile Hirschsprung disease-mental retardation syndrome with a 3-bp deletion in ZFHX1B. |
25. |
Zweier C et al. (2003) Characterisation of deletions of the ZFHX1B region and genotype-phenotype analysis in Mowat-Wilson syndrome. |
26. |
Ishihara N et al. (2004) Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFHX1B mutations and deletions at 2q22-q24.1. |
27. |
McGaughran J et al. (2005) Recurrence of Mowat-Wilson syndrome in siblings with the same proven mutation. |
28. |
Zweier C et al. (2006) Atypical ZFHX1B mutation associated with a mild Mowat-Wilson syndrome phenotype. |
29. |
Heinritz W et al. (2006) A missense mutation in the ZFHX1B gene associated with an atypical Mowat-Wilson syndrome phenotype. |
30. |
Dastot-Le Moal F et al. (2007) ZFHX1B mutations in patients with Mowat-Wilson syndrome. |
31. |
Ghoumid J et al. (2013) ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat-Wilson syndrome. |
32. |
Tanaka H et al. () Hirschsprung disease, unusual face, mental retardation, epilepsy, and congenital heart disease: Goldberg-Shprintzen syndrome. |
33. |
Orphanet article Orphanet ID 2152 |
34. |
OMIM.ORG article Omim 235730 |
35. |
Wikipedia article Wikipedia EN (Mowat–Wilson_syndrome) |