This website provides information on patients with mutations in the LARP7 gene, including clinical data, molecular data, management and research options.
Mutations in the LARP7 gene cause Alazami syndrome, an autosomal recessive disorder characterized by short stature, microcephaly, severe intellectual disability, and facial dysmorphism. Nonspecific and inconsistent skeletal findings, such as scoliosis and mild epiphyseal changes in the proximal phalanges, may be found in some patients.
This website was created to share and collect information about clinic, management and research projects to deliver more knowledge and provide better treatment to patients with mutations in the LARP7 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