Mulibrey nanism: clinical features and diagnostic criteria.

@article{Karlberg2004MulibreyNC,
  title={Mulibrey nanism: clinical features and diagnostic criteria.},
  author={Niklas Karlberg and Hannu J Jalanko and Jaakko Perheentupa and Marita Lipsanen-Nyman},
  journal={Journal of medical genetics},
  year={2004},
  volume={41 2},
  pages={92-8}
}
Mulibrey nanism (MUL) is an autosomal recessive disease caused by mutations in the TRIM37 gene encoding the peroxisomal TRIM37 protein of unknown function. In this work, we analysed the clinical characteristics of 85 Finnish patients with MUL, most of whom were homozygous for the Finn major mutation of TRIM37. The patients' hospital records from birth to the time of the diagnosis at age 0.02-52 years (median 2.1 years) were retrospectively analysed. All except four of the patients (95%) had a… CONTINUE READING

Citations

Publications citing this paper.
Showing 1-10 of 24 extracted citations

Report of two Syrian siblings with Mulibrey nanism

Oxford medical case reports • 2015
View 4 Excerpts
Highly Influenced

Mulibrey nanism: Two novel mutations in a child identified by Array CGH and DNA sequencing.

American journal of medical genetics. Part A • 2016
View 6 Excerpts
Highly Influenced

Where genetics and pathology meet: mulibrey nanism.

The Journal of pathology • 2009
View 5 Excerpts
Highly Influenced

References

Publications referenced by this paper.
Showing 1-10 of 30 references

Mulibrey nanism in a Turkish family with phenotypic heterogeneity. Hum Mut 2003;21:630–35

K Avela, M Lipsanen-Nyman, +6 authors AE. Lehesjoki
2003

Gene encoding a new RINGBboxCoiled - coil protein is mutated in mulibrey nanism

K Avela, M Lipsanen-Nyman, +6 authors AE Lehesjoki
Nat Genet • 2000

Mulibrey nanism and Wilms tumor.

American journal of medical genetics • 1999

Similar Papers

Loading similar papers…