| c. 595-596 insC of FOXC2 underlies lymphedema, distichiasis, ptosis, ankyloglossia, and Robin sequence in a Thai patient. | |
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MedLine Citation:
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PMID: 20186799 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Lymphedema-distichiasis syndrome is a rare primary lymphedema inherited as an autosomal dominant disorder. The characteristic features consist of late onset-lymphedema and distichiasis together with other occasionally seen features including varicose vein, cleft palate, ptosis, and congenital heart diseases. FOXC2 is the gene found to be associated with this syndrome. We report here the first Thai patient who has characteristic features of this syndrome and the infrequently described features including ankyloglossia, and Robin sequence which consists of glossoptosis, cleft palate, and micrognathia. Mutation analysis of FOXC2 revealed c. 595-596 insC. |
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Authors:
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Pranoot Tanpaiboon; Piranit Kantaputra; Karn Wejathikul; Wirawit Piyamongkol |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: American journal of medical genetics. Part A Volume: 152A ISSN: 1552-4833 ISO Abbreviation: Am. J. Med. Genet. A Publication Date: 2010 Mar |
Date Detail:
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Created Date: 2010-03-01 Completed Date: 2010-04-12 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101235741 Medline TA: Am J Med Genet A Country: United States |
Other Details:
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Languages: eng Pagination: 737-40 Citation Subset: IM |
Copyright Information:
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(c) 2010 Wiley-Liss, Inc. |
Affiliation:
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Faculty of Medicine, Department of Pediatrics, Chiang Mai University, Chiang Mai, Thailand. tanpaiboon1@yahoo.com |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics* Blepharoptosis / genetics Child DNA Mutational Analysis Eyelashes / abnormalities Forkhead Transcription Factors / genetics* Frameshift Mutation Genes, Dominant Humans Lingual Frenum / abnormalities Lymphedema / genetics*, radiography Male Mutagenesis, Insertional* Pierre Robin Syndrome / genetics* Syndrome Thailand |
| Chemical | |
Reg. No./Substance:
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0/Forkhead Transcription Factors; 0/mesenchyme fork head 1 protein |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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