Overview
Gene (OMIM No.) |
|
Function of gene/protein |
|
Clinical phenotype (OMIM phenotype no.) | |
Inheritance |
|
Ocular features |
|
Systemic features |
|
Key investigations |
|
Molecular diagnosis | Next generation sequencing
|
Management | OcularSystemic
|
Therapies under research |
|
Further information |
Additional information
The p.Arg266Cys mutation in GDF3 results in intra- and interfamilial phenotypic variability, manifesting as ocular and/or skeletal abnormalities.
References
- Ducy P, Karsenty G. The family of bone morphogenetic proteins. Kidney Int. 2000;57(6):2207‐2214
- Tracy MR, Dormans JP, Kusumi K. Klippel-Feil syndrome: clinical features and current understanding of etiology. Clin Orthop Relat Res. 2004;(424):183‐190
- Ye M, Berry-Wynne KM, Asai-Coakwell M, et al. Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies. Hum Mol Genet. 2010;19(2):287‐298