Congenital Joint Dislocations Caused by Carbohydrate Sulfotransferase 3 Deficiency in Recessive Larsen Syndrome and Humero-Spinal Dysostosis

Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis

Deborah Krakow, Stephen P. Robertson, Lily King et al. · Nature Genetics · 2004 · 287 citations · Full text

Developmental Biology, Bone Morphogenic Protein, Genetic Disorder +10

Multiple congenital dislocations associated with characteristics facial abnormality

Loren J. Larsen, Edwin R. Schottstaedt, Frederic C. Bost · The Journal of Pediatrics · 1950 · 270 citations

Developmental Anomaly, Gross Anatomy, Craniofacial Anomalies +4

Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance

Antonio Rossi, Andrea Superti‐Furga · Human Mutation · 2001 · 198 citations

Maintenance of chondroitin sulfation balance by chondroitin-4-sulfotransferase 1 is required for chondrocyte development and growth factor signaling during cartilage morphogenesis

Michael Klüppel, Thomas N. Wight, Christina K. Chan et al. · Development · 2005 · 190 citations

Tissue Engineering, Sclerostin, Engineering +20

Loss of chondroitin 6-<i>O</i>-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement

Hölger Thiele, Masahiro Sakano, Hiroshi Kitagawa et al. · Proceedings of the National Academy of Sciences · 2004 · 187 citations · Full text

Bioorganic Chemistry, Delta Hexa-galnac, Glycobiology +21