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

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MeSH Review:

Mulibrey Nanism

Karlberg, N. et al., Avela, K. et al.

Avela, Lipsanen-Nyman, Idänheimo, Seemanová, Rosengren, Mäkelä, Perheentupa, Chapelle, Lehesjoki,

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High impact information on Mulibrey Nanism

Mulibrey nanism (for muscle-liver-brain-eye nanism, MUL; MIM 253250) is an autosomal recessive disorder that involves several tissues of mesodermal origin, implying a defect in a highly pleiotropic gene [1].
We evaluated the glucose and lipid metabolism in 65 patients (aged 1.1-55 years) with mulibrey (muscle-liver-brain-eye) nanism (MUL), which is a monogenic disorder with prenatal-onset growth failure and typical clinical characteristics [2].

References

Gene encoding a new RING-B-box-Coiled-coil protein is mutated in mulibrey nanism. Avela, K., Lipsanen-Nyman, M., Idänheimo, N., Seemanová, E., Rosengren, S., Mäkelä, T.P., Perheentupa, J., Chapelle, A.D., Lehesjoki, A.E. Nat. Genet. (2000) [Pubmed]
Insulin Resistance Syndrome in Subjects With Mutated RING Finger Protein TRIM37. Karlberg, N., Jalanko, H., Kallijärvi, J., Lehesjoki, A.E., Lipsanen-Nyman, M. Diabetes (2005) [Pubmed]

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