Mulibrey nanism

Show simple item record Piccione, Maria - Salzano, Emanuela - 2018-07-04T10:59:47Z 2018-07-04T10:59:47Z 2017 -
dc.identifier.citation Maria, Piccione ; Emanuela, Salzano. Mulibrey nanism. Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2017, 2, p. 76-79 -
dc.identifier.issn 1768-3262
dc.description.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. en
dc.language.iso en -
dc.publisher ARMGHM - Atlas Génétique des Cancers -
dc.relation Atlas of Genetics and Cytogenetics in Oncology and Haematology ; -
dc.relation.ispartofseries Atlas of Genetics and Cytogenetics in Oncology and Haematology en
dc.rights Open access resource - terms and conditions : -
dc.subject Mulibrey nanism en
dc.subject TRIM37 en
dc.subject dwarfism en
dc.subject Wilms'tumor en
dc.subject.classification Kprones Section en
dc.subject.mesh Breast Neoplasms/*enzymology/*genetics en
dc.subject.mesh Female en
dc.subject.mesh Gene Expression Profiling en
dc.subject.mesh *Gene Expression Regulation, Neoplastic en
dc.subject.mesh Gene Knockdown Techniques en
dc.subject.mesh Gene Silencing en
dc.subject.mesh Heterografts en
dc.subject.mesh Histones/metabolism en
dc.subject.mesh Humans en
dc.subject.mesh MCF-7 Cells en
dc.subject.mesh Mice en
dc.subject.mesh NIH 3T3 Cells en
dc.title Mulibrey nanism en
dc.type Article -
dc.contributor.affiliation Department of Sciences for Health Promotion and Mother and Child Care G. D'Alessandro, University of Palermo, Palermo, Italy -

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