| Obstructive apneas and severe dysphagia in a girl with Townes-Brocks syndrome and atypical feet involvement. | |
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MedLine Citation:
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PMID: 19737635 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We report a girl with severe manifestations of Townes-Brocks syndrome (TBS) and a previously unreported serious congenital dysphagia. She is unable to swallow her saliva and consequently chokes frequently with desaturations still existing beyond the second year of life. Involvement of the feet was more extensive than is usually seen in TBS. Mutation analysis of the SALL1 gene, responsible for TBS, resulted in the identification of the de novo hot-spot mutation p.Arg276X. This report adds another rare, but serious manifestation to the multiorgan involvement found in TBS. |
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Authors:
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Yolande van Bever; Saskia J Gischler; Hans L J Hoeve; Liesbeth S Smit; Jeroen Nauta; Dennis Dooijes |
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Publication Detail:
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Type: Case Reports; Journal Article Date: 2009-09-06 |
Journal Detail:
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Title: European journal of medical genetics Volume: 52 ISSN: 1878-0849 ISO Abbreviation: Eur J Med Genet Publication Date: 2009 Nov-Dec |
Date Detail:
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Created Date: 2009-11-09 Completed Date: 2010-02-01 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101247089 Medline TA: Eur J Med Genet Country: Netherlands |
Other Details:
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Languages: eng Pagination: 426-9 Citation Subset: IM |
Affiliation:
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Department of Clinical Genetics, Erasmus Medical Centre, Sophia Children's Hospital, Rotterdam, The Netherlands. y.vanbever@erasmusmc.nl |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics,
physiopathology* Apnea / complications*, genetics, physiopathology Deglutition Disorders / complications*, genetics, physiopathology Female Foot Deformities, Congenital / genetics* Humans Infant, Newborn Syndrome Transcription Factors / genetics |
| Chemical | |
Reg. No./Substance:
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0/SALL1 protein, human; 0/Transcription Factors |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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