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Keywords: Primordial dwarfism
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Journal Articles
Journal: Development
Development (2020) 147 (21): dev190967.
Published: 14 August 2020
...Kyle D. Drake; Christopher Lemoine; Gabriela S. Aquino; Anna M. Vaeth; Rahul N. Kanadia; Sally Dunwoodie; John Wallingford ABSTRACT Disruption of the minor spliceosome due to mutations in RNU4ATAC is linked to primordial dwarfism in microcephalic osteodysplastic primordial dwarfism type 1, Roifman...
Includes: Supplementary data