A new mutation of the PCNT gene in a Colombian patient with microcephalic osteodysplastic primordial dwarfism type II: a case report
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Publisher
Springer Science and Business Media LLC
Subject
General Medicine
Link
http://link.springer.com/content/pdf/10.1186/1752-1947-8-191.pdf
Reference15 articles.
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2. Majewski F, Goecke T: Studies of microcephalic primordial dwarfism I: approach to delineation of the Seckel syndrome. Am J Med Genet. 1982, 12: 7-21. 10.1002/ajmg.1320120103.
3. Sigaudy S, Toutain A, Moncla A, Fredouille C, Bourlière B, Ayme S, Philip N: Microcephalic osteodysplastic primordial dwarfism Taybi-Linder type: report of four cases and review of the literature. Am J Med Genet. 1998, 80: 16-24. 10.1002/(SICI)1096-8628(19981102)80:1<16::AID-AJMG4>3.0.CO;2-5.
4. Willems M, Geneviève D, Borck G, Baumann C, Baujat G, Bieth E, Edery P, Farra C, Gerard M, Héron D, Leheup B, Le Merrer M, Lyonnet S, Martin-Coignard D, Mathieu M, Thauvin-Robinet C, Verloes A, Colleaux L, Munnich A, Cormier-Daire V: Molecular analysis of Pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families. J Med Genet. 2010, 47: 797-802. 10.1136/jmg.2009.067298.
5. Alderton GK, Joenje H, Varon R, Borglum AD, Jeggo PA, O’Driscoll M: Seckel syndrome exhibits cellular features demonstrating defects in the ATR-signalling pathway. Human Mol Genet. 2004, 13: 3127-3138. 10.1093/hmg/ddh335.
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