Mowat-Wilson syndrome: an underdiagnosed syndrome?
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2008.00997.x/fullpdf
Reference22 articles.
1. Clinical features and management issues in Mowat-Wilson syndrome;Adam;Am J Med Genet A,2006
2. ZFHX1B mutations in patients with Mowat-Wilson syndrome;Dastot-Le Moal;Hum Mutat,2007
3. Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease;Wakamatsu;Nat Genet,2001
4. Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFHX1B mutations and deletions at 2q22-q24.1;Ishihara;J Med Genet,2004
5. Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures;Amiel;Am J Hum Genet,2001
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1. Deletion of 2q22.2q22.3 in Mowat–Wilson Syndrome: A Case Report and Review of the Literature;Journal of Pediatric Neurology;2022-08-02
2. Neurological Phenotype of Mowat-Wilson Syndrome;Genes;2021-06-27
3. Reproductive risks and preimplantation genetic testing intervention for X–autosome translocation carriers;Reproductive BioMedicine Online;2021-03
4. Interstitial Deletion of 2q22.2q22.3 Involving the Entire ZEB2 Gene in a Case of Mowat-Wilson Syndrome;Molecular Syndromology;2021
5. Fetal diagnosis of Mowat‐Wilson syndrome by whole exome sequencing;American Journal of Medical Genetics Part A;2019-07-19
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