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An additional case of Nestor-Guillermo progeria syndrome diagnosed in early childhood.
Fisher HG, Patni N, Scheuerle AE. Fisher HG, et al. Am J Med Genet A. 2020 Oct;182(10):2399-2402. doi: 10.1002/ajmg.a.61777. Epub 2020 Aug 12. Am J Med Genet A. 2020. PMID: 32783369
Nestor-Guillermo progeria syndrome (NGPS; OMIM 614008) is characterized by early onset and slow progression of symptoms including poor growth, lipoatrophy, pseudosenile facial appearance, and normal cognitive development. ...
Nestor-Guillermo progeria syndrome (NGPS; OMIM 614008) is characterized by early onset and slow progression of s …
Nestor-Guillermo progeria syndrome: a novel premature aging condition with early onset and chronic development caused by BANF1 mutations.
Cabanillas R, Cadiñanos J, Villameytide JA, Pérez M, Longo J, Richard JM, Alvarez R, Durán NS, Illán R, González DJ, López-Otín C. Cabanillas R, et al. Am J Med Genet A. 2011 Nov;155A(11):2617-25. doi: 10.1002/ajmg.a.34249. Epub 2011 Sep 19. Am J Med Genet A. 2011. PMID: 21932319
Mutations in BANF1 have been recently reported to cause a new hereditary progeroid syndrome that we now propose to call the Nestor-Guillermo progeria syndrome (NGPS). We describe herein the clinical features of the first two NGPS patients, who phenocop …
Mutations in BANF1 have been recently reported to cause a new hereditary progeroid syndrome that we now propose to call the Nestor- …
An inherited LMNA gene mutation in atypical Progeria syndrome.
Doubaj Y, De Sandre-Giovannoli A, Vera EV, Navarro CL, Elalaoui SC, Tajir M, Lévy N, Sefiani A. Doubaj Y, et al. Am J Med Genet A. 2012 Nov;158A(11):2881-7. doi: 10.1002/ajmg.a.35557. Epub 2012 Sep 18. Am J Med Genet A. 2012. PMID: 22991222
APS are due in several cases to de novo heterozygous LMNA mutations other than the p.Gly608Gly, or due to homozygous BAFN1 mutations in Nestor-Guillermo Progeria syndrome (NGPS). We report here and discuss the observation of a non-consanguineous Morocc …
APS are due in several cases to de novo heterozygous LMNA mutations other than the p.Gly608Gly, or due to homozygous BAFN1 mutations in N …