Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL)-Reference-Cited by-同舟云学术

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

Published:2017-06 Issue: Volume:71 Page:213-225
ISSN:0026-0495
Container-title:Metabolism
language:en
Short-container-title:Metabolism

Author:

Elouej Sahar,Beleza-Meireles Ana,Caswell Richard,Colclough Kevin,Ellard Sian,Desvignes Jean Pierre,Béroud Christophe,Lévy Nicolas,Mohammed Shehla^ORCID,De Sandre-Giovannoli Annachiara

Publisher

Elsevier BV

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism

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