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    • Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly 

      Bear, Kelly A.; Solomon, Benjamin D.; Antonini, Sonir; Arnhold, Ivo J. P.; Franca, Marcela M.; Gerkes, Erica H.; Grange, Dorothy K.; Hadley, Donald W.; Jaaskelainen, Jarmo; Paulo, Sabrina S.; Rump, Patrick; Stratakis, Constantine A.; Thompson, Elizabeth M.; Willis, Mary; Winder, Thomas L.; Jorge, Alexander A. L.; Roessler, Erich; Muenke, Maximilian (Bmj Publishing Group, 2014-06-01)
      Background Mutations in GLI2 have been associated with holoprosencephaly (HPE), a neuroanatomic anomaly resulting from incomplete cleavage of the developing forebrain, and an HPE-like phenotype involving pituitary anomalies ...