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Delayed Diagnosis of Atypical Mowat-Wilson Syndrome
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참고문헌 (11)
- Wakamatsu N, "Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease", Nat Genet, 27, pp.369~370 (2001)
- Cacheux V, "Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease", Hum Mol Genet, 10, pp.1503~1510 (2001)
- Evans E, "The behavioral phenotype of Mowat-Wilson syndrome", Am J Med Genet A, 158A, pp.358~366 (2012)
- Park JY, "Mowat-Wilson syndrome detected by using high resolution microarray", Gene, 532, pp.307~309 (2013)
- 유한욱, "A case of Mowat–Wilson syndrome with developmental delays and Hirschsprung’s disease", 대한의학유전학회지, 11(2), pp.79~82 (2014), 대한의학유전학회
- Garavelli L, "Mowat-Wilson syndrome: facial phenotype changing with age: study of 19 Italian patients and review of the literature", Am J Med Genet A, 149A, pp.417~426 (2009)
- Ishihara N, "Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFHX1B mutations and deletions at 2q22-q24.1", J Med Genet, 41, pp.387~393 (2004)
- Zhang X, "Exome sequencing greatly expedites the progressive research of Mendelian diseases", Front Med, 8, pp.42~57 (2014)
- Mroch AR, "Solving the puzzle: case examples of array comparative genomic hybridization as a tool to end the diagnostic odyssey", Curr Probl Pediatr Adolesc Health Care, 42, pp.74~78 (2012)
- Kluk MJ, "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, 13, pp.363~367 (2011)
- Saunders CJ, "Comprehensive ZEB2 gene analysis for Mowat-Wilson syndrome in a North American cohort: a suggested approach to molecular diagnostics", Am J Med Genet A, 149A, pp.2527~2531 (2009)
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