Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly.
Document type:
Letter; Letter
Author(s):
Lenski, C; Abidi, F; Meindl, A; Gibson, A; Platzer, M; Frank Kooy, R; Lubs, HA; Stevenson, RE; Ramser, J; Schwartz, CE