Article
Néstor-Guillermo progeria syndrome: a novel premature aging condition with early onset and chronic development caused by BANF1 mutations.
American journal of medical genetics. Part A - 1 Nov 2011
Cabanillas Rubén, Cadiñanos Juan, Villameytide José A F, Pérez Mercedes, Longo Jesús, Richard José M, Alvarez Rebeca, Durán Noelia S, Illán Rafael, González Daniel J, López-Otín Carlos
Abstract excerpt
Progeria syndromes are rare disorders that involve premature aging. Mutations in BANF1 have been recently reported to cause a new hereditary progeroid syndrome that we now propose to call the Néstor-Guillermo progeria syndrome (NGPS). We describe herein the clinical features of the first two NGPS patients, who phenocopy features of classic progerias (i.e., Hutchinson-Gilford progeria syndrome or mandibuloacral...
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