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5 in total

1. Desbuquois syndrome presenting with severe neonatal dwarfism, spondylo-epiphyseal dysplasia and advanced carpal bone age.

Authors: S Jéquier; G Perreault; P Maroteaux
Journal: Pediatr Radiol Date: 1992

2. A molecular and clinical study of Larsen syndrome caused by mutations in FLNB.

Authors: Louise S Bicknell; Claire Farrington-Rock; Yousef Shafeghati; Patrick Rump; Yasemin Alanay; Yves Alembik; Navid Al-Madani; Helen Firth; Mohammad Hassan Karimi-Nejad; Chong Ae Kim; Kathryn Leask; Melissa Maisenbacher; Ellen Moran; John G Pappas; Paolo Prontera; Thomy de Ravel; Jean-Pierre Fryns; Elizabeth Sweeney; Alan Fryer; Sheila Unger; L C Wilson; Ralph S Lachman; David L Rimoin; Daniel H Cohn; Deborah Krakow; Stephen P Robertson
Journal: J Med Genet Date: 2006-06-26 Impact factor: 6.318

3. Desbuquois dysplasia type I and fetal hydrops due to novel mutations in the CANT1 gene.

Authors: Franco Laccone; Katharina Schoner; Birgit Krabichler; Britta Kluge; Robin Schwerdtfeger; Bernt Schulze; Johannes Zschocke; Helga Rehder
Journal: Eur J Hum Genet Date: 2011-06-08 Impact factor: 4.246

4. A case of skeletal dysplasia with advanced carpal ossification and "monkey wrench" appearance of the femora: mild Desbuquois dysplasia?

Authors: G Nishimura; S Sato; T Ogata; S Tamai; T Hasegawa; N Matsuo
Journal: Eur J Pediatr Date: 1996-12 Impact factor: 3.183

5. Desbuquois syndrome.

Authors: M Le Merrer; I D Young; V Stanescu; P Maroteaux
Journal: Eur J Pediatr Date: 1991-09 Impact factor: 3.183

5 in total