An autosomal recessive syndrome of severe mental retardation, cataract, coloboma and kyphosis maps to the pericentromeric region of chromosome 4

Kahrizi K, Najmabadi H, Kariminejad R, Jamali P, Malekpour M, Garshasbi M, Ropers HH, Kuss AW, Tzschach A. An autosomal recessive syndrome of severe mental retardation, cataract, coloboma and kyphosis maps to the pericentromeric region of chromosome 4. Eur J Hum Genet. 2009 Jan;17(1):125-8.