Condition: Mulibrey Nanism


rs121908391 in TRIM37 gene and Mulibrey Nanism PMID 10888877 2000 Gene encoding a new RING-B-box-Coiled-coil protein is mutated in mulibrey nanism.

PMID 21865362 2011 Testicular failure and male infertility in the monogenic Mulibrey nanism disorder.

PMID 17100991 2006 Wilms' tumor and novel TRIM37 mutations in an Australian patient with mulibrey nanism.

PMID 17551331 2007 A novel mutation in TRIM37 is associated with mulibrey nanism in a Turkish boy.

PMID 12754710 2003 A novel splice site mutation in the TRIM37 gene causes mulibrey nanism in a Turkish family with phenotypic heterogeneity.

PMID 15885686 2005 TRIM37 defective in mulibrey nanism is a novel RING finger ubiquitin E3 ligase.

PMID 15108285 2004 Novel mutations in the TRIM37 gene in Mulibrey Nanism.

PMID 23385855 2013 Refractory congestive heart failure following delayed pericardectomy in a 12-year-old child with Mulibrey nanism due to a novel mutation in TRIM37.

PMID 15108285 2004 The sixth mutation (c.965G>T) is the first missense mutation (p.Gly322Val) associated with Mulibrey nanism.