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Phenotypic presentations of Hajdu-Cheney syndrome according to age – 5 distinct clinical presentations

Graversen L, Handrup MM, Irving M, Hove H, Diness BR, Risom L et al. Phenotypic presentations of Hajdu-Cheney syndrome according to age – 5 distinct clinical presentations. European Journal of Medical Genetics. 2020 feb.;63(2):103650. doi: 10.1016/j.ejmg.2019.04.007