Citations for
1AAGAB, PPPK1
Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma.
Pohler E, Mamai O, Hirst J, Zamiri M, Horn H, Nomura T, Irvine AD, Moran B, Wilson NJ, Smith FJ, Goh CS, Sandilands A, Cole C, Barton GJ, Evans AT, Shimizu H, Akiyama M, Suehiro M, Konohana I, Shboul M, Teissier S, Boussofara L, Denguezli M, Saad A, Gribaa M, Dopping-Hepenstal PJ, McGrath JA, Brown SJ, Goudie DR, Reversade B, Munro CS, McLean WH.
Nat Genet 44(11):1272-6. doi: 10.1038/ng.2444. Epub 2012 Oct 14. 2012
2AAGAB, PPPK1
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.
Am J Hum Genet 91(4):754-9. doi: 10.1016/j.ajhg.2012.08.024. Epub 2012 Sep 20. 2012
3PPPK1
Refined localization of a punctate palmoplantar keratoderma gene to a 5.06-cM region at 15q22.2-15q22.31.
Gao M, Yang S, Li M, Yan KL, Jiang YX, Cui Y, Xiao FL, Shen YJ, Chen JJ, Liu JB, Xu SJ, Huang W, Zhang XJ.
Br J Dermatol 152(5):874-8. 2005
4PPPK1
Identification of a locus for type I punctate palmoplantar keratoderma on chromosome 15q22-q24.
Martinez-Mir A, Zlotogorski A, Londono D, Gordon D, Grunn A, Uribe E, Horev L, Ruiz IM, Davalos NO, Alayan O, Liu J, Gilliam TC, Salas-Alanis JC, Christiano AM.
J Med Genet 40(12):872-8. 2003