| Mowat-Wilson syndrome: the first two Malaysian cases. | |
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MedLine Citation:
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PMID: 20428734 Owner: NLM Status: In-Process |
Abstract/OtherAbstract:
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Mowat-Wilson syndrome (MWS) is a recently delineated mental retardation; a multiple congenital anomaly syndrome characterised by a typical facial gestalt, Hirschsprung disease or severe constipation, genitourinary anomaly, congenital heart defects, agenesis of corpus callosum and eye defects. Some cases also present with epilepsy, growth retardation with microcephaly and speech impairment. MWS was first described in 1998 by Mowat et al, and approximately 180 cases have been reported as of August 2008. The syndrome occurs as a result of heterozygous mutations or deletions in the zinc finger E-box-binding homeobox 2 gene, ZEB2, previously called ZFHX1B (SIP1). Most cases reported so far were sporadic occurrences; however, rare cases of sibling recurrence have been cited. The facial phenotype is particularly important for the initial clinical diagnosis and provides the hallmark, warranting ZEB2 mutational analysis even in the absence of Hirschsprung disease. We present the first two molecularly confirmed Malaysian MWS patients, one of whom has a novel mutation. |
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Authors:
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S Balasubramaniam; W T Keng; L H Ngu; L G Michel; G Irina |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Singapore medical journal Volume: 51 ISSN: 0037-5675 ISO Abbreviation: Singapore Med J Publication Date: 2010 Mar |
Date Detail:
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Created Date: 2010-04-29 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0404516 Medline TA: Singapore Med J Country: Singapore |
Other Details:
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Languages: eng Pagination: e54-7 Citation Subset: IM |
Affiliation:
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Department of Clinical Genetics, Pediatric Institute, Kuala Lumpur Hospital, Jalan Pahang, Kuala Lumpur 50586, Malaysia. saras329@hotmail.com |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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