This website provides information on patients with mutations in the RBM28 gene, including clinical data, molecular data, management, and research options.
Pathogenic variants in RBM28 cause Alopecia, Neurologic defects, and Endocrinopathy (ANE) syndrome which is a multisystem disorder characterized by alopecia, craniofacial malformations, hypoplastic pituitary, and hair and skin abnormalities.
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 RBM28 gene.
Filippo Pinto e Vairo, MD, PhD, Mayo Clinic, Rochester, MN, USA, firstname.lastname@example.org
Susan Baserga, MD, PhD, Yale School of Medicine, New Haven, CT, USA, email@example.com