Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations

Juvenile segmental progeroid syndromes are rare, heterogeneous disorders characterized by signs of premature aging affecting more than one tissue or organ starting in childhood. Hutchinson-Gilford progeria syndrome (HGPS), caused by a recurrent de novo synonymous LMNA mutation resulting in aberrant...

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Pubblicato in:Hum Genet
Autori principali: Lessel, Davor, Ozel, Ayse Bilge, Campbell, Susan E., Saadi, Abdelkrim, Arlt, Martin F., McSweeney, Keisha Melodi, Plaiasu, Vasilica, Szakszon, Katalin, Szőllős, Anna, Rusu, Cristina, Rojas, Armando J., Lopez-Valdez, Jaime, Thiele, Holger, Nürnberg, Peter, Nickerson, Deborah A., Bamshad, Michael J., Li, Jun Z., Kubisch, Christian, Glover, Thomas W., Gordon, Leslie B.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2018
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6652186/
https://ncbi.nlm.nih.gov/pubmed/30450527
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-018-1957-1
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