Gazda et al. (2008) reviewed medical records of DBA7 patients and found that associated physical malformations, predominantly involving the thumb, were seen in 12 of the 18 patients and included triphalangeal thumbs, small extra thumbs, and flat thenar ... Gazda et al. (2008) reviewed medical records of DBA7 patients and found that associated physical malformations, predominantly involving the thumb, were seen in 12 of the 18 patients and included triphalangeal thumbs, small extra thumbs, and flat thenar muscles, as well as ventricular septal defect, tetralogy of Fallot, horseshoe kidney, and vesicoureteral reflux. One patient had uterine cancer.
Gazda et al. (2008) screened 196 probands with Diamond-Blackfan anemia for mutations in 25 genes encoding ribosomal proteins and identified 11 different mutations in the RPL11 gene (604175) in 13 probands and 5 additional family members (see, e.g., ... Gazda et al. (2008) screened 196 probands with Diamond-Blackfan anemia for mutations in 25 genes encoding ribosomal proteins and identified 11 different mutations in the RPL11 gene (604175) in 13 probands and 5 additional family members (see, e.g., 604175.0001-604175.0004). The mutations segregated with disease in multiplex families and were not found in at least 150 controls, and functional studies demonstrated defects in the maturation of ribosomal RNAs associated with mutation in the RPL11 gene.