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5. Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome. McDonell LM; Mirzaa GM; Alcantara D; Schwartzentruber J; Carter MT; Lee LJ; Clericuzio CL; Graham JM; Morris-Rosendahl DJ; Polster T; Acsadi G; Townshend S; Williams S; Halbert A; Isidor B; David A; Smyser CD; Paciorkowski AR; Willing M; Woulfe J; Das S; Beaulieu CL; Marcadier J; ; Geraghty MT; Frey BJ; Majewski J; Bulman DE; Dobyns WB; O'Driscoll M; Boycott KM Nat Genet; 2013 May; 45(5):556-62. PubMed ID: 23542699 [TBL] [Abstract][Full Text] [Related]
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