Condition: Mowat-Wilson syndrome


rs137852981 in ZEB2 gene and Mowat-Wilson syndrome PMID 11592033 2001 Nonsense and frameshift mutations in ZFHX1B, encoding Smad-interacting protein 1, cause a complex developmental disorder with a great variety of clinical features.

PMID 12451214 2002 Late infantile Hirschsprung disease-mental retardation syndrome with a 3-bp deletion in ZFHX1B.

PMID 11448942 2001 Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease.

PMID 15384097 2004 Ocular coloboma and high myopia with Hirschsprung disease associated with a novel ZFHX1B missense mutation and trisomy 21.

PMID 16688751 2006 A missense mutation in the ZFHX1B gene associated with an atypical Mowat-Wilson syndrome phenotype.

PMID 21343952 2011 Clinical utility gene card for: Mowat-Wilson syndrome.

PMID 16053902 2005 Clinical and mutational spectrum of Mowat-Wilson syndrome.

PMID 17203459 2007 ZFHX1B mutations in patients with Mowat-Wilson syndrome.

PMID 19006215 2008 Recurrence of Mowat-Wilson syndrome in siblings with a novel mutation in the ZEB2 gene.

PMID 2030158 1991 Strongyloides stercoralis hyperinfection in an HIV positive patient.