Nonsense mutations in AAGAB cause punctate palmoplantar keratoderma type Buschke-Fischer-Brauer.
Giehl KA, Eckstein GN, Pasternack SM, Praetzel-Wunder S, Ruzicka T, Lichtner P, Seidl K, Rogers M, Graf E, Langbein L, Braun-Falco M, Betz RC, Strom TM.
Giehl KA, et al. Among authors: langbein l.
Am J Hum Genet. 2012 Oct 5;91(4):754-9. doi: 10.1016/j.ajhg.2012.08.024. Epub 2012 Sep 20.
Am J Hum Genet. 2012.
PMID: 23000146
Free PMC article.