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Schreml, Julia, Durmaz, Burak, Cogulu, Ozgur, Keupp, Katharina, Beleggia, Filippo ORCID: 0000-0003-0234-7094, Pohl, Esther, Milz, Esther, Coker, Mahmut, Ucar, Sema Kalkan ORCID: 0000-0001-9574-7841, Nuernberg, Gudrun, Nuernberg, Peter, Kuhn, Joachim and Ozkinay, Ferda (2014). The missing link: an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation. Hum. Genet., 133 (1). S. 29 - 40. NEW YORK: SPRINGER. ISSN 1432-1203

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