LBODP030 A Rare Case Of Partial Lipodystrophy From Mpdl (mandibular Hypoplasia, Deafness, Progeroid, Lipodystrophy Syndrome) Due To Pold1 Gene Mutation

MDPL (Mandibular hypoplasia, Deafness, Progeroid, Lipodystrophy syndrome) caused by a mutation in the polymerase delta 1 (POLD1) gene is an extremely rare progeroid syndrome associated with partial lipodystrophy. Currently, there are about 24 cases reported worldwide(1), mostly in people of European...

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Detalles Bibliográficos
Autores principales: Majumdar, Sujoyeeta, Gaba, Ruchi, Ram, Nalini, Force, Bahar Kapoor
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Cardiovascular Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9624868/
http://dx.doi.org/10.1210/jendso/bvac150.485

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9624868/
http://dx.doi.org/10.1210/jendso/bvac150.485

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