HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome
Ronja Hollstein, David A Parry, Lisa Nalbach, Clare V Logan, Tim M Strom, Verity L Hartill, Ian M Carr, Georg C Korenke, Sandeep Uppal, Mushtaq Ahmed, Thomas Wieland, Alexander F Markham, Christopher P Bennett, Gabriele Gillessen-Kaesbach, Eamonn G Sheridan, Frank J Kaiser, David T Bonthron
Journal of Medical Genetics Dec 2015, 52 (12) 797-803; DOI: 10.1136/jmedgenet-2015-103344