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

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

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 <...

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Bibliographic Details
Main Authors: Linda R. Wang MD, Aleksandar Radonjic BSc, Allison A. Dilliott BSc, Adam D. McIntyre BSc, Robert A. Hegele MD, FRCPC, FACP
Format: Article
Language:English
Published: SAGE Publishing 2018-07-01
Series:Journal of Investigative Medicine High Impact Case Reports
Online Access:https://doi.org/10.1177/2324709618786770

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https://doi.org/10.1177/2324709618786770

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