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- Title
Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype.
- Authors
Ostergaard, Pia; Simpson, Michael A; Brice, Glen; Mansour, Sahar; Connell, Fiona C; Onoufriadis, Alexandros; Child, Anne H; Hwang, Jae; Kalidas, Kamini; Mortimer, Peter S; Trembath, Richard; Jeffery, Steve
- Abstract
Primary lymphoedema describes a chronic, frequently progressive, failure of lymphatic drainage. This disorder is frequently genetic in origin, and a multigenerational family in which eight individuals developed postnatal lymphoedema of all four limbs was ascertained from the joint Lymphoedema/Genetic clinic at St George's Hospital.
- Publication
Journal of medical genetics, 2011, Vol 48, Issue 4, p251
- ISSN
1468-6244
- Publication type
Journal Article
- DOI
10.1136/jmg.2010.085563