Phenotypic characterization of primary lymphedema.
Identifieur interne : 003261 ( PubMed/Corpus ); précédent : 003260; suivant : 003262Phenotypic characterization of primary lymphedema.
Auteurs : Fiona Connell ; Glen Brice ; Peter MortimerSource :
- Annals of the New York Academy of Sciences [ 0077-8923 ] ; 2008.
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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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><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">18519967</PMID><DateCreated><Year>2008</Year><Month>06</Month><Day>03</Day></DateCreated><DateCompleted><Year>2008</Year><Month>07</Month><Day>03</Day></DateCompleted><DateRevised><Year>2008</Year><Month>06</Month><Day>03</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">0077-8923</ISSN><JournalIssue CitedMedium="Print"><Volume>1131</Volume><PubDate><Year>2008</Year></PubDate></JournalIssue><Title>Annals of the New York Academy of Sciences</Title><ISOAbbreviation>Ann. N. Y. Acad. 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