PuSH - Publication Server of Helmholtz Zentrum München

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1.
Reijnders, M.R.* et al.: PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature. J. Med. Genet. 55, 104-113 (2017)
2.
Kuechler, A.* et al.: De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: Expanding the mutational and clinical spectrum. Hum. Genet. 134, 97-109 (2015)