Publication | Open Access

Temtamy Preaxial Brachydactyly Syndrome Is Caused by Loss-of-Function Mutations in Chondroitin Synthase 1, a Potential Target of BMP Signaling

Developmental BiologyMendelian DisorderBone Morphogenic ProteinGenetic DisorderGeneticsDegenerative DiseaseLoss-of-function MutationsPotential TargetGene ExpressionMedicineChondroitin Synthase 1Connective Tissue Disease