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*

*Corresponding author for this work

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Biochemistry, Genetics and Molecular Biology