Mulibrey nanism: clinical features and diagnostic criteria.

  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},
  volume={41 2},
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


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