Article
Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL).
Metabolism: clinical and experimental - 1 Jun 2017
Elouej Sahar, Beleza-Meireles Ana, Caswell Richard, Colclough Kevin, Ellard Sian, Desvignes Jean Pierre, Béroud Christophe, Lévy Nicolas, Mohammed Shehla, De Sandre-Giovannoli Annachiara
Abstract excerpt
BACKGROUND: Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL) is an autosomal dominant systemic disorder characterized by prominent loss of subcutaneous fat, a characteristic facial appearance and metabolic abnormalities. This syndrome is caused by heterozygous de novo mutations in the POLD1 gene. To date, 19 patients with MDPL have been reported in the literature and among...
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