De novo variants disruting the HX repeat motif of ATN1 cause a non-progressive neurocognitive disorder with recognisable facial features and congenital malformations

E. E. Palmer, S. Hong, F. Al Zahrani, M. Omar Hashem, F. A. Aleisa, H. M. Jalal Ahmed, T. Kandula, R. Macintosh, A. Minoche, C. Puttick, V. Gayevskiy, A. P. Drew, M. J. Cowley, M. E. Dinger, J. A. Rosenfeld, R. Xiao, M. T. Cho, L. B. Henderson, M. J. Guillen Sacoto, A. BegtrupM. Hamad, M. Shinawi, M. Andrews, M. C. Jones, K. Lindstrom, S. Kayani, M. Snyder, M. Villanueva, A. Schteinschnaider, T. Roscioli, E. P. Kirk, A. Bye, J. Merzaban, L. Jaremko, M. Jaremko, R. K. Sachdev, F. S. Alkuraya, S. T. Arold

Research output: Contribution to journalMeeting Abstractpeer-review

Original languageEnglish
Pages (from-to)213-214
Number of pages2
JournalEuropean Journal of Human Genetics
StatePublished - Jul 2019
Event51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG) - Milan, Italy
Duration: Jun 16 2018Jun 19 2018

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