Pasternack SM, Refke M, Paknia E, Hennies HC, Franz T, Schafer N, Fryer A, van Steensel M, Sweeney E, Just M, Grimm C, Kruse R, Ferrandiz C, Nothen MM, Fischer U, Betz RC
Title
Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplex.
