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Mulibrey nanism : ウィキペディア英語版 | Mulibrey nanism
Mulibrey nanism ("MUscle-LIver-BRain-EYe nanism"), also called Perheentupa syndrome and pericardial constriction with growth failure, is a rare autosomal recessive congenital disorder. It causes severe growth failure (dwarfism) along with abnormalities of the heart, muscle, liver, brain and eye. Mulibrey nanism has been associated with a recessive defect in the gene TRIM37. TRIM37 is responsible for various cellular functions including developmental patterning.〔(【引用サイトリンク】accessdate=2009-05-07 )〕 ==Characteristics== A person with Mulibrey nanism has growth retardation, a short broad neck, misshapen sternum, small thorax, square shoulders, triangular face, unusual voice, enlarged liver, and yellowish dots in the ocular fundi.〔OMIM (1966-2009). Mulibrey nanism. NCBI (Johns Hopkins University). Retrieved May 7, 2009 from, http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=253250〕 Individuals with Mulibrey nanism have also been reported to have mental retardation, tumors, and infertility.〔
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