Analysis of prevalence and degree of macrocephaly in patients with germline PTEN mutations and of brain weight in Pten knock-in murine model
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://www.nature.com/articles/ejhg201120.pdf
Reference27 articles.
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2. Starink TM, van der Veen JP, Arwert F et al: The Cowden syndrome: a clinical and genetic study in 21 patients. Clin Genet 1986; 29: 222–233.
3. Butler MG, Dasouki MJ, Zhou XP et al: Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations. J Med Genet 2005; 42: 318–321.
4. Zhou XP, Marsh DJ, Morrison CD et al: Germline inactivation of PTEN and dysregulation of the phosphoinositol-3-kinase/Akt pathway cause human Lhermitte-Duclos disease in adults. Am J Hum Genet 2003; 73: 1191–1198.
5. Marsh DJ, Coulon V, Lunetta KL et al: Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation. Hum Mol Genet 1998; 7: 507–515.
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