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 (Q28246179)
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scientific article (publication date: November 2014)
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | 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 |
scientific article (publication date: November 2014) |
Statements
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 (English)
Ferruccio Santini
1 reference
Caterina Pelosini
Silvia Martinelli
Silvia Magno
Ilaria Barone
Alessio Basolo
Paola Fierabracci
Paolo Vitti
Margherita Maffei