Phenotypic Characterization of Primary Lymphedema
Identifieur interne : 006D68 ( Main/Exploration ); précédent : 006D67; suivant : 006D69Phenotypic Characterization of Primary Lymphedema
Auteurs : Fiona Connell ; Glen Brice ; Peter Mortimer (dermatologue) [Royaume-Uni]Source :
- Annals of the New York Academy of Sciences [ 0077-8923 ] ; 2008-05.
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.
Url:
DOI: 10.1196/annals.1413.013
Affiliations:
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(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" 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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.</div></front></TEI><affiliations><list><country><li>Royaume-Uni</li></country><region><li>Angleterre</li><li>Grand Londres</li></region><settlement><li>Londres</li></settlement><orgName><li>Université de Londres</li></orgName></list><tree><noCountry><name sortKey="Brice, Glen" sort="Brice, Glen" uniqKey="Brice G" first="Glen" last="Brice">Glen Brice</name><name sortKey="Connell, Fiona" sort="Connell, Fiona" uniqKey="Connell F" first="Fiona" last="Connell">Fiona Connell</name></noCountry><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Mortimer, Peter" sort="Mortimer, Peter" uniqKey="Mortimer P" first="Peter" last="Mortimer">Peter Mortimer (dermatologue)</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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