The desmosterolosis phenotype: spasticity, microcephaly and micrognathia with agenesis of corpus callosum and loss of white matter
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://www.nature.com/articles/ejhg201174.pdf
Reference18 articles.
1. Waterham HR, Koster J, Romeijn GJ et al: Mutations in the 3-beta-hydroxysterol delta-24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis. Am J Hum Genet 2001; 69: 685–694.
2. Birnbaum RY, Zvulunov A, Hallel-Halevy D et al: Seborrhea-like dermatitis with psoriasiform elements caused by a mutation in ZNF750, encoding a putative C2H2 zinc finger protein. Nat Genet 2006; 38: 749–751.
3. Khateeb S, Flusser H, Ofir R et al: PLA2G6 mutation underlies infantile neuroaxonal dystrophy. Am J Hum Genet 2006; 79: 942–948.
4. Silberstein M, Tzemach A, Dovgolevsky N, Fishelson M, Schuster A, Geiger D : Online system for faster multipoint linkage analysis via parallel execution on thousands of personal computers. Am J Hum Genet 2006; 78: 922–935.
5. Narkis G, Ofir R, Landau D et al: Lethal contractural syndrome type 3 (LCCS3) is caused by a mutation in PIP5K1C, which encodes PIPKI gamma of the phophatidylinsitol pathway. Am J Hum Genet 2007; 81: 530–539.
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