## Communicated by Andreas Gal Mulibrey nanism is an autosomal recessive prenatal-onset growth disorder of unknown pathogenesis. The main clinical features are pre-and postnatal growth failure, characteristic dysmorphic craniofacial features, heart disease, and hepatomegaly. Five truncating mutatio
Wilms’ tumor and novel TRIM37 mutations in an Australian patient with mulibrey nanism
✍ Scribed by RH Hämäläinen; D Mowat; MT Gabbett; TA O’Brien; J Kallijärvi; A-E Lehesjoki
- Book ID
- 110888274
- Publisher
- John Wiley and Sons
- Year
- 2006
- Tongue
- English
- Weight
- 343 KB
- Volume
- 70
- Category
- Article
- ISSN
- 0009-9163
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Mulibrey nanism (muscle-liver-brain-eye nanism; MUL) is an autosomal recessively transmitted disease characterized by severe growth delays of prenatal onset caused by mutations in the TRIM37 gene. Recent studies on the subcellular localization revealed that the TRIM37 (KIAA0898) protein is located i
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by hamartomas in many organs. Two genes responsible for TSC, TSC1 and TSC2, were recently identified. TSC1 and TSC2 encode the proteins hamartin and tuberin, respectively, and 337 different mutations have been reported