Phenotypic Characterization of Primary Lymphedema
Identifieur interne : 001906 ( Istex/Corpus ); précédent : 001905; suivant : 001907Phenotypic Characterization of Primary Lymphedema
Auteurs : Fiona Connell ; Glen Brice ; Peter MortimerSource :
- Annals of the New York Academy of Sciences [ 0077-8923 ] ; 2008-05.
Abstract
The phenotypic entities of primary lymphedema vary in age of onset, site of edema, associated features, inheritance patterns, and underlying genetic cause. Determining the representative phenotype for different types of genetically determined primary lymphedema has been successfully achieved with Milroy's disease and the lymphedema–distichiasis syndrome. Here we describe and illustrate their well‐delineated phenotypes. Phenotype characterization facilitates the identification of causative genes, as has been demonstrated with VEGFR3 and FOXC2, in Milroy's disease and lymphedema–distichiasis respectively. Other forms of primary lymphedema are discussed.
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DOI: 10.1196/annals.1413.013
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Determining the representative phenotype for different types of genetically determined primary lymphedema has been successfully achieved with Milroy's disease and the lymphedema–distichiasis syndrome. Here we describe and illustrate their well‐delineated phenotypes. Phenotype characterization facilitates the identification of causative genes, as has been demonstrated with <hi rend="italic">VEGFR3</hi> and <hi rend="italic">FOXC2</hi>, in Milroy's disease and lymphedema–distichiasis respectively. Other forms of primary lymphedema are discussed.</p></abstract><textClass><keywords xml:lang="en"><term xml:id="k1">lymphedema–distichiasis</term><term xml:id="k2">lymphoscintigraphy</term><term xml:id="k3">phenotype</term><term xml:id="k4">primary lymphedema</term><term xml:id="k5">Milroy's disease</term></keywords><classCode scheme="tocHeading1">Part III. 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Biological Principles in Lymphedema Diagnosis and Management</title></titleGroup><copyright>© 2008 New York Academy of Sciences</copyright><eventGroup><event type="firstOnline" date="2008-05-28"></event><event type="publishedOnlineFinalForm" date="2008-05-28"></event><event type="xmlConverted" agent="Converter:BPG_TO_WML3G version:2.3.5 mode:FullText source:FullText result:FullText" date="2010-04-07"></event><event type="xmlConverted" agent="Converter:WILEY_ML3G_TO_WILEY_ML3GV2 version:4.0.1" date="2014-03-19"></event><event type="xmlConverted" agent="Converter:WML3G_To_WML3G version:4.1.7 mode:FullText,remove_FC" date="2014-10-14"></event></eventGroup><numberingGroup><numbering type="pageFirst" number="140">140</numbering><numbering type="pageLast" number="146">146</numbering></numberingGroup><correspondenceTo>Address for correspondence: Glen Brice, South West Thames Regional Genetics Unit, St Georges University of London, Cranmer Terrace, London, UK SW17 0RE. Voice: +44‐2087255192; fax: +44‐2087253444.
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Determining the representative phenotype for different types of genetically determined primary lymphedema has been successfully achieved with Milroy's disease and the lymphedema–distichiasis syndrome. Here we describe and illustrate their well‐delineated phenotypes. Phenotype characterization facilitates the identification of causative genes, as has been demonstrated with VEGFR3 and FOXC2, in Milroy's disease and lymphedema–distichiasis respectively. Other forms of primary lymphedema are discussed.</abstract><subject lang="en"><genre>keywords</genre><topic>lymphedema–distichiasis</topic><topic>lymphoscintigraphy</topic><topic>phenotype</topic><topic>primary lymphedema</topic><topic>Milroy's disease</topic></subject><relatedItem type="host"><titleInfo><title>Annals of the New York Academy of Sciences</title></titleInfo><genre type="journal">journal</genre><identifier type="ISSN">0077-8923</identifier><identifier type="eISSN">1749-6632</identifier><identifier type="DOI">10.1111/(ISSN)1749-6632</identifier><identifier type="PublisherID">NYAS</identifier><part><date>2008</date><detail type="title"><title>The Lymphatic Continuum Revisited</title></detail><detail type="volume"><caption>vol.</caption><number>1131</number></detail><detail type="issue"><caption>no.</caption><number>1</number></detail><extent unit="pages"><start>140</start><end>146</end><total>7</total></extent></part></relatedItem><identifier type="istex">36348B65B93188AA6A082B5C0472DF4D98FC0CDA</identifier><identifier type="DOI">10.1196/annals.1413.013</identifier><identifier type="ArticleID">NYAS1131013</identifier><accessCondition type="use and reproduction" contentType="copyright">© 2008 New York Academy of Sciences</accessCondition><recordInfo><recordContentSource>WILEY</recordContentSource><recordOrigin>Blackwell Publishing Inc</recordOrigin></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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