Associated Papers
Clinical Presentation and WES Analysis of a Large Iranian Pedigree in Five Successive Generation Affected to Sever Multiple Synostosis 2 (SYNS2, Farhud Type).
Farhud DD et al.
Iranian Journal of Public Health, 2024
A missense GDF5 variant causes brachydactyly type A1 and multiple-synostoses syndrome 2.
Li J et al.
Jor Spine, 2024
Further delineation of the GDF6 related multiple synostoses syndrome.
Terhal PA et al.
American Journal of Medical Genetics. Part A, 2018
Mutant GDF5 enhances ameloblast differentiation via accelerated BMP2-induced Smad1/5/8 phosphorylation.
Liu J et al.
Scientific Reports, 2016
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
New insights into the molecular mechanism of multiple synostoses syndrome (SYNS): mutation within the GDF5 knuckle epitope causes noggin-resistance.
Schwaerzer GK et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2012
GDF5 is a second locus for multiple-synostosis syndrome.
Dawson K et al.
American Journal of Human Genetics, 2006
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