Article
Mapping of the locus for cholestasis-lymphedema syndrome (Aagenaes syndrome) to a 6.6-cM interval on chromosome 15q.
American journal of human genetics - 1 Oct 2000
Bull L N, Roche E, Song E J, Pedersen J, Knisely A S, van Der Hagen C B, Eiklid K, Aagenaes O, Freimer N B
Abstract excerpt
Patients with cholestasis-lymphedema syndrome (CLS) suffer severe neonatal cholestasis that usually lessens during early childhood and becomes episodic; they also develop chronic severe lymphedema. The genetic cause of CLS is unknown. We performed a genome screen, using DNA from eight Norwegian patients with CLS and from seven unaffected relatives, all from an extended pedigree. Regions potentially shared...
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