The mutation ROR2W749X, linked to human BDB, is a recessive mutation in the mouse, causing brachydactyly, mediating patterning of joints and modeling recessive Robinow syndrome

• Published in: Development (Cambridge) Vol. 135; no. 9; pp. 1713 - 1723
• Main Authors: Raz, Regina, Stricker, Sigmar, Gazzerro, Elizabetta, Clor, Julie L, Witte, Florian, Nistala, Harakiran, Zabski, Stefanie, Pereira, Renata C, Stadmeyer, Lisa, Wang, Xiangmin, Gowen, Lori, Sleeman, Mark W, Yancopoulos, George D, Canalis, Ernesto, Mundlos, Stefan, Valenzuela, David M, Economides, Aris N
• Format: Journal Article
• Language: English
• Published: England The Company of Biologists Limited 01.05.2008
• Subjects: Abnormalities, Multiple - embryology; Abnormalities, Multiple - genetics; Animals; Body Mass Index; Bone Morphogenetic Proteins - metabolism; Fertility - genetics; Genes, Recessive; Growth Differentiation Factor 5; Humans; Joints - abnormalities; Joints - embryology; Limb Deformities, Congenital - embryology; Limb Deformities, Congenital - genetics; Male; Mice; Mice, Mutant Strains; Musculoskeletal Abnormalities - embryology; Musculoskeletal Abnormalities - genetics; Mutation; Receptor Protein-Tyrosine Kinases - genetics; Receptor Protein-Tyrosine Kinases - physiology; Receptor Tyrosine Kinase-like Orphan Receptors; Syndrome

Mutations in ROR2 result in a spectrum of genetic disorders in humans that are classified, depending on the nature of the mutation and the clinical phenotype, as either autosomal dominant brachydactyly type B (BDB, MIM 113000) or recessive Robinow syndrome (RRS, MIM 268310). In an attempt to model B...