A De Novo POLD1 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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Detalles Bibliográficos
Autores principales: Wang, Linda R., Radonjic, Aleksandar, Dilliott, Allison A., McIntyre, Adam D., Hegele, Robert A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6047234/
https://www.ncbi.nlm.nih.gov/pubmed/30023403
http://dx.doi.org/10.1177/2324709618786770

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6047234/
https://www.ncbi.nlm.nih.gov/pubmed/30023403
http://dx.doi.org/10.1177/2324709618786770

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