Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome.
Nature Genetics
McDonell, Laura M LM; Mirzaa, Ghayda M GM; Alcantara, Diana D; Schwartzentruber, Jeremy J; Carter, Melissa T MT; Lee, Leo J LJ; Clericuzio, Carol L CL; Graham, John M JM; Morris-Rosendahl, Deborah J DJ; Polster, Tilman T; Acsadi, Gyula G; Townshend, Sharron S; Williams, Simon S; Halbert, Anne A; Isidor, Bertrand B; David, Albert A; Smyser, Christopher D CD; Paciorkowski, Alex R AR; Willing, Marcia M; Woulfe, John J; Das, Soma S; Beaulieu, Chandree L CL; Marcadier, Janet J; , ; Geraghty, Michael T MT; Frey, Brendan J BJ; Majewski, Jacek J; Bulman, Dennis E DE; Dobyns, William B WB; O'Driscoll, Mark M; Boycott, Kym M KM