Novel association of severe neonatal encephalopathy and Hirschsprung disease in a male with a duplication at the Xq28 region
Fernández RM, Núñez-Torres R, González-Meneses A, Antiñolo G, Borrego S. BMC Med Genet. 2010 Sep 22;11:137
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First experience of enzyme replacement therapy with idursulfase in Spanish patients with Hunter syndrome under 5 years of age: Case observations from the Hunter Outcome Survey (HOS)
Alcalde-Martín C, Muro-Tudelilla JM, Cancho-Candela R, Gutiérrez-Solana LG, Pintos-Morell G, Martí-Herrero M, Munguira-Aguado P, Galán-Gómez E. Eur J Med Genet. 2010 Aug 10
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
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
