c. 595-596 insC of FOXC2 underlies lymphedema, distichiasis, ptosis, ankyloglossia, and robin sequence in a Thai patient

c. 595-596 insC of FOXC2 underlies lymphedema, distichiasis, ptosis, ankyloglossia, and robin sequence in a Thai patient

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 hear...

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Main Authors: Tanpaiboon,P., Kantaputra,P.N.I., Wejathikul,K., Piyamongkol,W.
Format: Article
Published: Wiley-Liss Inc. 2015
Subjects:
Genetics (clinical)
Genetics
Online Access:http://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&scp=77649227668&origin=inward
http://cmuir.cmu.ac.th/handle/6653943832/38173
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Institution: Chiang Mai University
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spelling th-cmuir.6653943832-381732015-06-16T07:46:26Z c. 595-596 insC of FOXC2 underlies lymphedema, distichiasis, ptosis, ankyloglossia, and robin sequence in a Thai patient Tanpaiboon,P. Kantaputra,P.N.I. Wejathikul,K. Piyamongkol,W. Genetics (clinical) Genetics 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. © 2010 Wiley-Liss, Inc. 2015-06-16T07:46:26Z 2015-06-16T07:46:26Z 2010-03-01 Article 15524825 2-s2.0-77649227668 10.1002/ajmg.a.33273 20186799 http://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&scp=77649227668&origin=inward http://cmuir.cmu.ac.th/handle/6653943832/38173 Wiley-Liss Inc.
institution Chiang Mai University
building Chiang Mai University Library
country Thailand
collection CMU Intellectual Repository
topic Genetics (clinical)
Genetics
spellingShingle Genetics (clinical)
Genetics
Tanpaiboon,P.
Kantaputra,P.N.I.
Wejathikul,K.
Piyamongkol,W.
c. 595-596 insC of FOXC2 underlies lymphedema, distichiasis, ptosis, ankyloglossia, and robin sequence in a Thai patient
description 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. © 2010 Wiley-Liss, Inc.
format Article
author Tanpaiboon,P.
Kantaputra,P.N.I.
Wejathikul,K.
Piyamongkol,W.
author_facet Tanpaiboon,P.
Kantaputra,P.N.I.
Wejathikul,K.
Piyamongkol,W.
author_sort Tanpaiboon,P.
title c. 595-596 insC of FOXC2 underlies lymphedema, distichiasis, ptosis, ankyloglossia, and robin sequence in a Thai patient
title_short c. 595-596 insC of FOXC2 underlies lymphedema, distichiasis, ptosis, ankyloglossia, and robin sequence in a Thai patient
title_full c. 595-596 insC of FOXC2 underlies lymphedema, distichiasis, ptosis, ankyloglossia, and robin sequence in a Thai patient
title_fullStr c. 595-596 insC of FOXC2 underlies lymphedema, distichiasis, ptosis, ankyloglossia, and robin sequence in a Thai patient
title_full_unstemmed c. 595-596 insC of FOXC2 underlies lymphedema, distichiasis, ptosis, ankyloglossia, and robin sequence in a Thai patient
title_sort c. 595-596 insc of foxc2 underlies lymphedema, distichiasis, ptosis, ankyloglossia, and robin sequence in a thai patient
publisher Wiley-Liss Inc.
publishDate 2015
url http://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&scp=77649227668&origin=inward
http://cmuir.cmu.ac.th/handle/6653943832/38173
_version_ 1681421425330618368

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