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单词 Mulibrey nanism
释义

Mulibrey nanism

英语百科

Mulibrey nanism

Mulibrey nanism has an autosomal recessive pattern of inheritance.

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.

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更新时间:2025/6/17 18:39:36