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
CDG-IL: An infant with a novel mutation in the ALG9 gene and additional phenotypic features
β Scribed by Michael Weinstein; Els Schollen; Gert Matthijs; Christine Neupert; Thierry Hennet; Claudia E. Grubenmann; Christian G. Frank; Markus Aebi; Joe T. R. Clarke; Anne Griffiths; Lorne Seargeant; Nicola Poplawski
- Publisher
- John Wiley and Sons
- Year
- 2005
- Tongue
- English
- Weight
- 92 KB
- Volume
- 136A
- Category
- Article
- ISSN
- 1552-4825
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