Health Conditions and Diseases Musculoskeletal Disorders Congenital Anomalies Dwarfism
Mulibrey Nanism
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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.
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Karlberg, Jalanko, Perheentupa and Lipsanen-Nyman review symptoms of 85 Finnish patients, and propose new diagnostic criteria for MUL.
[PDF]
Summarizes the state of knowledge of mulibrey nanism, also known as Perheentupa Syndrome.
Factsheet on this rare autosomal recessive disorder, its clinical features, associated diseases and management.
Summarizes the state of knowledge of mulibrey nanism, also known as Perheentupa Syndrome.
Factsheet on this rare autosomal recessive disorder, its clinical features, associated diseases and management.
Karlberg, Jalanko, Perheentupa and Lipsanen-Nyman review symptoms of 85 Finnish patients, and propose new diagnostic criteria for MUL.
[PDF]
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September 26, 2015 at 3:39:36 UTC
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- Recently edited by shedragon
- Recently edited by shedragon