This website provides information on patients with mutations in the ANTXR2 gene (OMIM *608041), including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the ANTXR2 gene is hyaline fibromatosis syndrome (HFS; # 228600), also known as ANTXR2-Related Hyaline Fibromatosis Syndrome.
This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the ANTXR2 gene.
Sheetal Sharda, MD, DM (Medical Genetics), Neuberg Centre for Genomic Medicine, Ahmedabad, sheetalsharda@hotmail.com
Nitika Langeh, PhD (Medical Genetics), Neuberg Centre for Genomic Medicine, Ahmedabad, nitikalangeh713@gmail.com