Article
Congenital, low penetrance lymphedema of lower limbs maps to chromosome 6q16.2-q22.1 in an inbred Pakistani family.
Human genetics - 1 Mar 2008
Malik Sajid, Grzeschik Karl-Heinz
Abstract excerpt
Hereditary lymphedema is a rare, lymphatic disorder resulting in the chronic swelling of the extremities. It shows wide inter- and intra-familial clinical heterogeneity as well as variability in the age of onset. There are more than four genetically distinct lymphedema conditions known and mutations in three genes have been discovered in families with lymphedema. However, many other familial lymphedemas do not...
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