Evolving clinical manifestations of mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome: From infancy to adulthood in a 31‐year‐old woman

A Chinese girl with mandibular hypoplasia, deafness, progeroid features, and lipodystrophy (MDPL) diagnosed via POLD1 mutation detection

(2020) Xiu-Wen Wang et al.   CHINESE MEDICAL JOURNAL

Characterization of MDPL Fibroblasts Carrying the Recurrent p.Ser605del Mutation in POLD1 Gene

(2018) Chiara Fiorillo et al.   DNA AND CELL BIOLOGY

Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL)

(2017) Sahar Elouej et al.   METABOLISM-CLINICAL AND EXPERIMENTAL

POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillance

(2015) Fernando Bellido et al.   GENETICS IN MEDICINE

POLD1Germline Mutations in Patients Initially Diagnosed with Werner Syndrome

(2015) Davor Lessel et al.   HUMAN MUTATION

Mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome in the context of inherited lipodystrophies

(2015) Frederic Reinier et al.   METABOLISM-CLINICAL AND EXPERIMENTAL

Identification of a novel mutation in the polymerase delta 1 (POLD1) gene in a lipodystrophic patient affected by mandibular hypoplasia, deafness, progeroid features (MDPL) syndrome

(2014) Caterina Pelosini et al.   METABOLISM-CLINICAL AND EXPERIMENTAL

An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy

(2013) Michael N Weedon et al.   NATURE GENETICS

DNA polymerase delta in dna replication and genome maintenance

(2012) Marc J. Prindle et al.   ENVIRONMENTAL AND MOLECULAR MUTAGENESIS

A Novel Syndrome of Mandibular Hypoplasia, Deafness, and Progeroid Features Associated with Lipodystrophy, Undescended Testes, and Male Hypogonadism

(2010) Savitha Shastry et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM