PuSH - Publication Server of Helmholtz Zentrum München

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1.
Oud, M.M.* et al.: Mutations in EXTL3 cause neuro-immuno-skeletal dysplasia syndrome. Am. J. Hum. Genet. 100, 281-296 (2017)
2.
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)