Identification of a frameshift mutation in Osterix in a patient with recessive osteogenesis imperfecta

Lapunzina P, Aglan M, Temtamy S, Caparrós-Martín JA, Valencia M, Letón R, Martínez-Glez V, Elhossini R, Amr K, Vilaboa N, Ruiz-Perez VL. Am J Hum Genet. 2010 Jul 9;87(1):110-4. Epub 2010 Jun 24