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 Jr; 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; Nature Genetics, 2013, vol. 45, issue 5, p 556, ISSN 15461718. ISBN 15461718.

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