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    Novel LMNA mutations cause an aggressive atypical neonatal progeria without progerin accumulation.

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    URI
    http://hdl.handle.net/11287/615365
    Author
    Soria-Valles, C.
    Carrero, D.
    Gabau, E.
    Velasco, G.
    Quesada, V.
    Bárcena, C.
    Moens, M.
    Fieggen, K.
    Möhrcken, S.
    Owens, Martina
    Puente, D. A.
    Asensio, Ó.
    Loeys, B.
    Pérez, A.
    Benoit, V.
    Wuyts, W.
    Lévy, N.
    Hennekam, R. C.
    De Sandre-Giovannoli, A.
    López-Otín, C.
    Date
    2016-06-22
    Journal
    Journal of medical genetics
    Type
    Journal Article
    Publisher
    BMJ
    DOI
    10.1136/jmedgenet-2015-103695
    Rights
    Archived with thanks to Journal of Medical Genetics
    Metadata
    Show full item record
    Abstract
    Progeroid syndromes are genetic disorders that recapitulate some phenotypes of physiological ageing. Classical progerias, such as Hutchinson-Gilford progeria syndrome (HGPS), are generally caused by mutations in LMNA leading to accumulation of the toxic protein progerin and consequently, to nuclear envelope alterations. In this work, we describe a novel phenotypic feature of the progeria spectrum affecting three unrelated newborns and identify its genetic cause.
    Citation
    Novel LMNA mutations cause an aggressive atypical neonatal progeria without progerin accumulation. 2016: J. Med. Genet.
    Publisher URL
    http://jmg.bmj.com/cgi/pmidlookup?view=long&pmid=27334370
    Collections
    • 2016 RD&E publications
    • Molecular Genetics

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