Latham SL, Ehmke N, Reinke PYA, Taft MH, Eicke D, Reindl T, Stenzel W, Lyons MJ, Friez MJ, Lee JA, Hecker R, Fruhwald MC, Becker K, Neuhann TM, Horn D, Schrock E, Niehaus I, Sarnow K, Grutzmann K, Gawehn L, Klink B, Rump A, Chaponnier C, Figueiredo C, Knofler R, Manstein DJ, Di Donato N

Variants in exons 5 and 6 of ACTB cause syndromic thrombocytopenia.

Nat Commun 9:4250 (2018)
DOI:10.1038/s41467-018-06713-0

Cai ED, Sun BK, Chiang A, Rogers A, Bernet L, Cheng B, Teng J, Rieger KE, Sarin KY

Postzygotic Mutations in Beta-Actin Are Associated with Becker's Nevus and Becker's Nevus Syndrome.

J Invest Dermatol 137:1795-1798 (2017)
DOI:10.1016/j.jid.2017.03.017