A De Novo Mutation Associated With Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome in a Family With Werner Syndrome

• Main Authors: Linda R. Wang MD (Author), Aleksandar Radonjic BSc (Author), Allison A. Dilliott BSc (Author), Adam D. McIntyre BSc (Author), Robert A. Hegele MD, FRCPC, FACP (Author)
• Format: Book
• Published: SAGE Publishing, 2018-07-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Background. Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy (MDPL) syndrome is a recently recognized genetic disorder comprised of mandibular hypoplasia, deafness, progeroid features, and lipodystrophy. It is caused by an autosomal dominant mutation in the POLD1 gene, with <...