The importance of rare diseases: from the gene to society
Dodge JA, Chigladze T, Donadieu J, Grossman Z, Ramos F, Serlicorni A, Siderius L, Stefanidis CJ, Tasic V, Valiulis A, Wierzba J. Arch Dis Child. 2010 Aug 12
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Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia
Ott CE, Leschik G, Trotier F, Brueton L, Brunner HG, Brussel W, Guillen-Navarro E, Haase C, Kohlhase J, Kotzot D, Lane A, Lee-Kirsch MA, Morlot S, Simon ME, Steichen-Gersdorf E, Tegay DH, Peters H, Mundlos S, Klopocki E. Hum Mutat. 2010 Aug;31(8):E1587-93
Clinical and genetic findings in five female patients with haemophilia A: Identification of a novel missense mutation, p.Phe2127Ser
Martín-Salces M, Venceslá A, Alvárez-Román MT, Rivas I, Fernandez I, Butta N, Baena M, Fuentes-Prior P, Tizzano EF, Jiménez-Yuste V. Thromb Haemost. 2010 Oct;104(4):718-23. Epub 2010 Jul 20
CDKN1C (p57(Kip2)) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms
Romanelli V, Belinchón A, Benito-Sanz S, Martínez-Glez V, Gracia-Bouthelier R, Heath KE, Campos-Barros A, García-Miñaur S, Fernandez L, Meneses H, López-Siguero JP, Guillén-Navarro E, Gómez-Puertas P, Wesselink JJ, Mercado G, Esteban-Marfil V, Palomo R, Mena R, Sánchez A, Del Campo M, Lapunzina P. Am J Med Genet A. 2010 Jun;152A(6):1390-7
