Segregation of a novel FBN1 gene mutation, G1796E, with kyphoscoliosis and radiographic evidence of vertebral dysplasia in three generations.

Autor: Adès LC; Marfan Research Group, Department of Clinical Genetics, The Children's Hospital at Westmead, LB 4001, Westmead, NSW 2145, Australia. lesleya@chw.edu.au, Sreetharan D, Onikul E, Stockton V, Watson KC, Holman KJ

Publikováno v: American journal of medical genetics [Am J Med Genet] 2002 May 15; Vol. 109 (4), pp. 261-70.