Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene

Rebecca Nagy, Heng Wang, Beate Albrecht, Dagmar Wieczorek, Gabriele Gillessen- Kaesbach, Eric Haan, Peter Meinecke, Albert de la Chapelle, Judith Westman

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    Medicine and Dentistry

    Biochemistry, Genetics and Molecular Biology