Mutations in SNRPE, which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex

Sandra M Pasternack, Melanie Refke, Elham Paknia, Hans Christian Hennies, Thomas Franz, Niklas Schäfer, Alan Fryer, Maurice van Steensel, Elizabeth Sweeney, Miquel Just, Clemens Grimm, Roland Kruse, Carlos Ferrándiz, Markus M Nöthen, Utz Fischer, Regina C Betz

Research output: Contribution to journalArticlepeer-review

24 Citations (Scopus)

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Medicine & Life Sciences