Authors: Lebo, RV Shapiro, LR Fenerci, EY Hoover, JM Chuang, JL Chuang, DT Kronn, DF

Citation: Rv. Lebo et al., Rare etiology of autosomal recessive disease in a child with noncarrier parents, AM J HU GEN, 67(3), 2000, pp. 750-754