Now showing items 1-2 of 2

    • Clinical and genetic aspects of KBG syndrome. 

      Low, K.; Ashraf, T.; Canham, N.; Clayton-Smith, J.; Deshpande, C.; Donaldson, A.; Fisher, R.; Flinter, F.; Foulds, N.; Fryer, A.; Gibson, K.; Hayes, I.; Hills, A.; Holder, S. E.; Irving, M.; Joss, S.; Kivuva, Emma; Lachlan, K.; Magee, A. C.; McConnell, V.; McEntagart, M. E.; Metcalfe, K.; Montgomery, T.; Newbury-Ecob, R.; Stewart, F.; Turnpenny, Peter D.; Vogt, J.; Fitzpatrick, D.; Williams, M.; Smithson, S. (Wiley, 2016-09-26)
      KBG syndrome is characterized by short stature, distinctive facial features, and developmental/cognitive delay and is caused by mutations in ANKRD11, one of the ankyrin repeat-containing cofactors. We describe 32 KBG ...
    • SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile 

      Al-Jawahiri, R.; Foroutan, A.; Kerkhof, J.; McConkey, H.; Levy, M.; Haghshenas, S.; Rooney, K.; Turner, J.; Shears, D.; Holder, M.; Lefroy, H.; Castle, B.; Reis, L. M.; Semina, E. V.; Lachlan, K.; Chandler, K.; Wright, T.; Clayton-Smith, J.; Hug, F. P.; Pitteloud, N.; Bartoloni, L.; Hoffjan, S.; Park, S. M.; Thankamony, A.; Lees, M.; Wakeling, E.; Naik, S.; Hanker, B.; Girisha, K. M.; Agolini, E.; Giuseppe, Z.; Alban, Z.; Tessarech, M.; Keren, B.; Afenjar, A.; Zweier, C.; Reis, A.; Smol, T.; Tsurusaki, Y.; Nobuhiko, O.; Sekiguchi, F.; Tsuchida, N.; Matsumoto, N.; Kou, I.; Yonezawa, Y.; Ikegawa, S.; Callewaert, B.; Freeth, M.; Kleinendorst, L.; Donaldson, A.; Alders, M.; De Paepe, A.; Sadikovic, B.; McNeill, A. (Nature, 2022-03-24)
      PURPOSE: This study aimed to undertake a multidisciplinary characterization of the phenotype associated with SOX11 variants. METHODS: Individuals with protein altering variants in SOX11 were identified through exome and ...