Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL)
Author:
Publisher
Elsevier BV
Subject
Endocrinology,Endocrinology, Diabetes and Metabolism
Reference28 articles.
1. A novel syndrome of mandibular hypoplasia, deafness, and progeroid features associated with lipodystrophy, undescended testes, and male hypogonadism;Shastry;J Clin Endocrinol Metab,2010
2. Lamin a truncation in Hutchinson-Gilford progeria;De Sandre-Giovannoli;Science,2003
3. Recurrent de novo point mutations in lamin a cause Hutchinson-Gilford progeria syndrome;Eriksson;Nature,2003
4. Exome sequencing and functional analysis identifies BANF1 mutation as the cause of a hereditary progeroid syndrome;Puente;Am J Hum Genet,2011
5. Positional cloning of the Werner's syndrome gene;Yu;Science,1996
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