
Homozygous SALL1 Mutation Causes a Novel Multiple Congenital Anomaly-Mental Retardation Syndrome
Keywords: cDNA; Complementary DNA; CNS; central nervous system; CNS-TBS; Central nervous system-Townes-Brocks syndrome; mRNA; messenger RNA; MCA-MR; Multiple congenital anomaly-mental retardation; NMD; Nonsense-mediated mRNA decay; TBS; Townes-Brocks syndrome; TO