Associated Papers
A missense GDF5 variant causes brachydactyly type A1 and multiple-synostoses syndrome 2.
Li J et al.
Jor Spine, 2024
Defective Joint Development and Maintenance in GDF6-Related Multiple Synostoses Syndrome.
Yu T et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2023
Mutant GDF5 enhances ameloblast differentiation via accelerated BMP2-induced Smad1/5/8 phosphorylation.
Liu J et al.
Scientific Reports, 2016
Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1.
Racacho L et al.
European Journal of Human Genetics : Ejhg, 2015
Improved bone defect healing by a superagonistic GDF5 variant derived from a patient with multiple synostoses syndrome.
Degenkolbe E et al.
Bone, 2015
A GDF5 point mutation strikes twice--causing BDA1 and SYNS2.
Degenkolbe E et al.
Plos Genetics, 2013
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