Novel GLIS3 mutations demonstrate an extended multisystem phenotype.

  title={Novel GLIS3 mutations demonstrate an extended multisystem phenotype.},
  author={Paul Dimitri and Justin T. Warner and Jayne A. L. Minton and A M Patch and Sian Ellard and Andrew T Hattersley and Steve Barr and David Hawkes and Jerry K. H. Wales and John W. Gregory},
  journal={European journal of endocrinology},
  volume={164 3},
INTRODUCTION Mutations in the GLI-similar 3 (GLIS3) gene encoding the transcription factor GLIS3 are a rare cause of neonatal diabetes and congenital hypothyroidism with six affected cases from three families reported to date. Additional features, described previously, include congenital glaucoma, hepatic fibrosis, polycystic kidneys, developmental delay and facial dysmorphism. SUBJECTS We report two new cases from unrelated families with distinct novel homozygous partial GLIS3 deletions… CONTINUE READING