| Severe clinical course of Hirschsprung disease in a Mowat-Wilson syndrome patient. | |
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MedLine Citation:
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PMID: 20145308 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We present a clinical case of a female infant with multiple anomalies and distinctive facial features, with an exceptionally severe clinical course of Hirschsprung disease. The girl was also diagnosed with Mowat-Wilson syndrome, confirmed by molecular analysis as a heterozygous deletion of the ZEB2 gene. Moreover, molecular karyotyping revealed a deletion involving further genes (KYNU, ARHGAP15, and GTDC1). |
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Authors:
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R Smigiel; A Szafranska; M Czyzewska; A Rauch; Ch Zweier; D Patkowski |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Journal of applied genetics Volume: 51 ISSN: 1234-1983 ISO Abbreviation: J. Appl. Genet. Publication Date: 2010 |
Date Detail:
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Created Date: 2010-02-10 Completed Date: 2010-05-18 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9514582 Medline TA: J Appl Genet Country: Poland |
Other Details:
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Languages: eng Pagination: 111-3 Citation Subset: IM |
Affiliation:
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Department of Genetics, Wroc?aw Medical University, Marcinkowskiego 1, 50-368 Wroc?aw, Poland. smigiel@gen.am.wroc.pl |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics*,
pathology Female GTPase-Activating Proteins / genetics Gene Deletion* Genotype Glycosyltransferases / genetics Heterozygote Hirschsprung Disease / complications, genetics*, pathology Homeodomain Proteins / genetics* Humans Hydrolases / genetics Infant, Newborn Karyotyping Mental Retardation / complications, genetics*, pathology Phenotype Repressor Proteins / genetics* Syndrome |
| Chemical | |
Reg. No./Substance:
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0/GTPase-Activating Proteins; 0/Homeodomain Proteins; 0/Repressor Proteins; 0/ZEB2 protein, human; 0/rho GTPase-activating protein 15, human; EC 2.4.-/GTDC1 protein, human; EC 2.4.-/Glycosyltransferases; EC 3.-/Hydrolases; EC 3.7.1.3/kynureninase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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