LymphedemaV1, Main, Merge, bibRecord, 006E77

Phenotypic Characterization of Primary Lymphedema

Identifieur interne : 006E77 ( Main/Merge ); précédent : 006E76; suivant : 006E78

Phenotypic 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.

RBID : ISTEX:36348B65B93188AA6A082B5C0472DF4D98FC0CDA

Descripteurs français

KwdFr :
- Cils (malformations), Facteurs de transcription (génétique), Humains, Lymphoedème (génétique), Phénotype, Protéines de liaison à l'ADN (génétique).
MESH :
- génétique : Facteurs de transcription, Lymphoedème, Protéines de liaison à l'ADN.
- malformations : Cils.
- Humains, Phénotype.

English descriptors

KwdEn :
- DNA-Binding Proteins (genetics), Eyelashes (abnormalities), Humans, Lymphedema (genetics), Phenotype, Transcription Factors (genetics).
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:

https://api.istex.fr/document/36348B65B93188AA6A082B5C0472DF4D98FC0CDA/fulltext/pdf

DOI: 10.1196/annals.1413.013

Links to Exploration step

ISTEX:36348B65B93188AA6A082B5C0472DF4D98FC0CDA

Le document en format XML

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Serveur d'exploration sur le lymphœdème

Phenotypic Characterization of Primary Lymphedema

Phenotypic Characterization of Primary Lymphedema

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Abstract

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