Associated Papers
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
Rare heterozygous GDF6 variants in patients with renal anomalies.
Martens H et al.
European Journal of Human Genetics : Ejhg, 2020
32737436 (PubMed )
Supplement: 41431_2020_678_MOESM1_ESM.pdf
A Novel GDF6 Mutation in a Family with Multiple Synostoses Syndrome without Hearing Loss.
Drage Berentsen R et al.
Molecular Syndromology, 2019
Further delineation of the GDF6 related multiple synostoses syndrome.
Terhal PA et al.
American Journal of Medical Genetics. Part A, 2018
A point mutation in Fgf9 impedes joint interzone formation leading to multiple synostoses syndrome.
Tang L et al.
Human Molecular Genetics, 2017
A New Subtype of Multiple Synostoses Syndrome Is Caused by a Mutation in GDF6 That Decreases Its Sensitivity to Noggin and Enhances Its Potency as a BMP Signal.
Wang J et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2016
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