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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Zimmermann-Laband syndrome in an adult. Long-term follow-up of a patient with vascular and cardiac complications.

Zimmermann-Laband syndrome (ZLS) is characterised by findings of coarse facial appearance, hepatosplenomegaly, and hirsutism often first observed in infancy, followed by the evolution during childhood of gingival fibromatosis, small joint hyperextensibility, and hypoplasia of the finger- and toenails. Intellectual deficit is variable. Some of these findings are suggestive of a storage disorder, but no biochemical defect has been identified. We report on a four decade follow-up of a male with ZLS who developed a cardiomyopathy and dilatation of the aortic root and arch, anomalies hitherto undescribed in this syndrome.[1]

References

  1. Zimmermann-Laband syndrome in an adult. Long-term follow-up of a patient with vascular and cardiac complications. Robertson, S.P., Lipp, H., Bankier, A. Am. J. Med. Genet. (1998) [Pubmed]
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