1. Wakamatsu N, Yamada Y, Yamada K, Ono T, Nomura N, Taniguchi H, et al. Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease. Nat Genet. 2001; 27:369–370.
Article
2. Cacheux V, Dastot-Le Moal F, Kääriäinen H, Bondurand N, Rintala R, Boissier B, et al. Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease. Hum Mol Genet. 2001; 10:1503–1510.
Article
3. Evans E, Einfeld S, Mowat D, Taffe J, Tonge B, Wilson M. The behavioral phenotype of Mowat-Wilson syndrome. Am J Med Genet A. 2012; 158A:358–366.
Article
4. Park JY, Cho EH, Lee EH, Kang YS, Jun KR, Hur YJ. Mowat-Wilson syndrome detected by using high resolution microarray. Gene. 2013; 532:307–309.
Article
5. Lee D, Kim JH, Cho JH, Oh MY, Lee BH, Kim GH, et al. A case of Mowat-Wilson syndrome with developmental delays and Hirschsprung's disease. J Genet Med. 2014; 11:79–82.
Article
6. Garavelli L, Zollino M, Mainardi PC, Gurrieri F, Rivieri F, Soli F, et al. Mowat-Wilson syndrome: facial phenotype changing with age: study of 19 Italian patients and review of the literature. Am J Med Genet A. 2009; 149A:417–426.
Article
7. Ishihara N, Yamada K, Yamada Y, Miura K, Kato J, Kuwabara N, et al. Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFHX1B mutations and deletions at 2q22-q24.1. J Med Genet. 2004; 41:387–393.
Article
8. Zhang X. Exome sequencing greatly expedites the progressive research of Mendelian diseases. Front Med. 2014; 8:42–57.
Article
9. Mroch AR, Flanagan JD, Stein QP. Solving the puzzle: case examples of array comparative genomic hybridization as a tool to end the diagnostic odyssey. Curr Probl Pediatr Adolesc Health Care. 2012; 42:74–78.
Article
10. Kluk MJ, An Y, James P, Coulter D, Harris D, Wu BL, et al. Avoiding pitfalls in molecular genetic testing: case studies of high-resolution array comparative genomic hybridization testing in the definitive diagnosis of Mowat-Wilson syndrome. J Mol Diagn. 2011; 13:363–367.
11. Saunders CJ, Zhao W, Ardinger HH. Comprehensive ZEB2 gene analysis for Mowat-Wilson syndrome in a North American cohort: a suggested approach to molecular diagnostics. Am J Med Genet A. 2009; 149A:2527–2531.