Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplex.
Pasternack SM, Refke M, Paknia E, Hennies HC, Franz T, Schäfer N, Fryer A, van Steensel M, Sweeney E, Just M, Grimm C, Kruse R, Ferrándiz C, Nöthen MM, Fischer U, Betz RC.
Pasternack SM, et al. Among authors: just m.
Am J Hum Genet. 2013 Jan 10;92(1):81-7. doi: 10.1016/j.ajhg.2012.10.022. Epub 2012 Dec 13.
Am J Hum Genet. 2013.
PMID: 23246290
Free PMC article.