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Chromosomal deletion unmasking a recessive disease: 22q13 deletion syndrome and metachromatic leukodystrophy

A-M Bisgaard1, M Kirchhoff, J E Nielsen

  • 1Department of Clinical Genetics, Rigshospitalet, University Hospital of Copenhagen, Copenhagen, Denmark. am-bisgaard@dadlnet.dk

Clinical Genetics
|December 5, 2008
PubMed

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