Identification of the first PAR1 deletion encompassing upstream SHOX enhancers in a family with idiopathic short stature

Por Benito-Sanz, Sara, Aza-Carmona, Miriam, Rodríguez-Estevez, Amaya, Rica-Etxebarria, Ixaso, Gracia, Ricardo, Campos-Barros, Ángel, Heath, Karen E
Publicado em 2012

Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia

Por Barca-Tierno, Verónica, Aza-Carmona, Miriam, Barroso, Eva, Heine-Suner, Damia, Azmanov, Dimitar, Rosell, Jordi, Ezquieta, Begoña, Montané, Lucia Sentchordi, Vendrell, Teresa, Cruz, Jaime, Santos, Fernando, Rodríguez, José Ignacio, Pozo, Jesús, Argente, Jesús, Kalaydjieva, Luba, Gracía, Ricardo, Campos-Barros, Ángel, Benito-Sanz, Sara, Heath, Karen E
Publicado em 2011