Phenotypic characterization of primary lymphedema.
Identifieur interne : 002D38 ( Ncbi/Curation ); précédent : 002D37; suivant : 002D39Phenotypic characterization of primary lymphedema.
Auteurs : Fiona Connell [Royaume-Uni] ; Glen Brice ; Peter Mortimer (dermatologue) [Royaume-Uni]Source :
- Annals of the New York Academy of Sciences [ 0077-8923 ] ; 2008.
Descripteurs français
- KwdFr :
- MESH :
- génétique : Facteurs de transcription, Lymphoedème, Protéines de liaison à l'ADN.
- malformations : Cils.
- Humains, Phénotype.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : DNA-Binding Proteins, Transcription Factors.
- abnormalities : Eyelashes.
- genetics : Lymphedema.
- Humans, Phenotype.
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.
DOI: 10.1196/annals.1413.013
PubMed: 18519967
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pubmed:18519967Le document en format XML
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Brice</name></author><author><name sortKey="Mortimer, Peter" sort="Mortimer, Peter" uniqKey="Mortimer P" first="Peter" last="Mortimer">Peter Mortimer (dermatologue)</name><affiliation><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName><orgName type="university">Université de Londres</orgName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2008">2008</date><idno type="RBID">pubmed:18519967</idno><idno type="pmid">18519967</idno><idno type="doi">10.1196/annals.1413.013</idno><idno type="wicri:Area/PubMed/Corpus">003261</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">003261</idno><idno type="wicri:Area/PubMed/Curation">003261</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">003261</idno><idno 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Proteins (genetics)</term><term>Eyelashes (abnormalities)</term><term>Humans</term><term>Lymphedema (genetics)</term><term>Phenotype</term><term>Transcription Factors (genetics)</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Cils (malformations)</term><term>Facteurs de transcription (génétique)</term><term>Humains</term><term>Lymphoedème (génétique)</term><term>Phénotype</term><term>Protéines de liaison à l'ADN (génétique)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>DNA-Binding Proteins</term><term>Transcription Factors</term></keywords><keywords scheme="MESH" qualifier="abnormalities" xml:lang="en"><term>Eyelashes</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Lymphedema</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Facteurs de transcription</term><term>Lymphoedème</term><term>Protéines de liaison à l'ADN</term></keywords><keywords scheme="MESH" qualifier="malformations" xml:lang="fr"><term>Cils</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Humans</term><term>Phenotype</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Humains</term><term>Phénotype</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">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.</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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