This website provides information on patients with a mutation in the GNPNAT1gene, including clinical data, molecular data, management and research options.
Ain-Naz type of Rhizomeli dysplasia (RHZDAN), caused by mutations in the GNPNAT1gene, is characterized by severe short stature with marked rhizomelic shortening of the limbs, platyspondyly, and large hands and feet relative to height.
Radiographic evaluation revealed marked rhizomelic shortening of the limbs, and hands and feet showed irregularities in metacarpal and metatarsal length.
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 a mutation in the GNPNAT1gene.
Noor ul Ain, PhD, Institute of Biomedical and Genetic Engineering, Islamabad, Pakistan, noorulain.sbs@pu.edu.pk