Mulibrey nanism

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URI: http://hdl.handle.net/2042/68164  |   DOI : https://doi.org/10.4267/2042/68164
Title: Mulibrey nanism
Author: Piccione, Maria; Salzano, Emanuela
Abstract: Mulibrey (MUscle-LIver-BRain-EYe) nanism is a rare autosomal recessive disorder caused by mutations in TRIM37 gene and characterized by growth failure with prenatal onset, dysmorphic features, muscolar hypotonia, veins congestion secondary to constrinctive pericarditis and yellowish dots in fundi. Patients present cutaneous nevi flammi, anomalies of gonadal function, type 2 diabetes, fibrous dyasplasia of long bones and an increased risk for Wilms' tumor. Life expectancy depends mainly on cardiovascular complications.
Subject: Mulibrey nanism; TRIM37; dwarfism; Wilms'tumor; Kprones Section; Breast Neoplasms/*enzymology/*genetics; Female; Gene Expression Profiling; *Gene Expression Regulation, Neoplastic; Gene Knockdown Techniques; Gene Silencing; Heterografts; Histones/metabolism; Humans; MCF-7 Cells; Mice; NIH 3T3 Cells
Publisher: ARMGHM - Atlas Génétique des Cancers
Date: 2017

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