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

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Mulibrey nanism: three additional patients and a review of 39 patients.

We report on 3 patients with Mulibrey nanism ( MN), or Perheentupa syndrome: the first 2 sibs from Argentina and a new patient from Spain. All 3 patients had growth failure, short stature, abnormal pigmentary retinal changes, and a J-shaped sella turcica. These findings are considered major criteria of MN. Two had pericardial constriction, which is a frequent and life-threatening abnormality in this syndrome. MN is a rare autosomal recessive condition. Reviewing the 39 patients described so far, we have classified the anomalies into the very frequent (present in more than 66%), frequent (in at least 25%), and not frequent. Identifying the anomalies specific to MN should help its early diagnosis and treatment.[1]

References

  1. Mulibrey nanism: three additional patients and a review of 39 patients. Lapunzina, P., Rodríguez, J.I., de Matteo, E., Gracia, R., Moreno, F. Am. J. Med. Genet. (1995) [Pubmed]
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