This website provides information on patients with mutations in the POC1A gene, including clinical data, molecular data, management and research options.
Mutations in the POC1A gene cause an autosomal recessive form of primordial dwarfism, called SOFT (short stature, onychodysplasia, facial dysmorphism, and hypotrichosis) 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 POC1A gene.
Fowzan S Alkuraya, MD (Hons) ABP ABMG (Clinical Genetics and Clinical Molecular Genetics), Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia / Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia, firstname.lastname@example.org
Fadie D. Altuame, MBBS Candidate, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia, email@example.com