Directory of Mulibrey Nanism Resources

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Mulibrey nanism (MUscle-LIver-BRain-EYe nanism) is a rare growth disorder of prenatal onset caused by mutations in the TRIM37 gene. Mulibrey nanism is inherited autosomally recessively, and is characterized by prenatal-onset growth failure, constrictive cardiopathy, hepatomegaly, muscle hypotonia, J-shaped sella turcica, yellowish dots in the retinal midperiphery, and typical appearance.

Resources in This Category

• Mulibrey Nanism: Clinical Features and Diagnostic Criteria

  http://jmg.bmj.com/content/41/2/92.full.pdf
  Karlberg, Jalanko, Perheentupa and Lipsanen-Nyman review symptoms of 85 Finnish patients, and propose new diagnostic criteria for MUL.

• Online Inheritance in Man

  http://omim.org/entry/253250
  Summarizes the state of knowledge of mulibrey nanism, also known as Perheentupa Syndrome.

• Patient: Mulibrey Nanism

  http://patient.info/doctor/mulibrey-nanism
  Factsheet on this rare autosomal recessive disorder, its clinical features, associated diseases and management.

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• Home > Regional > Europe > Finland > Health > Conditions and Diseases
• Home > Health > Conditions and Diseases > Genetic Disorders

 

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