De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome
American Journal of Human Genetics
Year:
2019
DOI:10.1016/j.ajhg.2019.01.013
Authors:
Elizabeth E Palmer, Seungbeom Hong, Fatema Al Zahrani, Mais O Hashem, Fajr A Aleisa, Heba M Jalal Ahmed, Tejaswi Kandula, Rebecca Macintosh, Andre E Minoche, Clare Puttick, Velimir Gayevskiy, Alexander P Drew, Mark J Cowley, Marcel Dinger, Jill A Rosenfeld, Rui Xiao, Megan T Cho, Suliat F Yakubu, Lindsay B Henderson, Maria J Guillen Sacoto, Amber Begtrup, Muddathir Hamad, Marwan Shinawi, Marisa V Andrews, Marilyn C Jones, Kristin Lindstrom, Ruth E Bristol, Saima Kayani, Molly Snyder, María Mercedes Villanueva, Angeles Schteinschnaider, Laurence Faivre, Christel Thauvin, Antonio Vitobello, Tony Roscioli, Edwin P Kirk, Ann Bye, Jasmeen Merzaban, Łukasz Jaremko, Mariusz Jaremko, Rani K Sachdev, Fowzan S Alkuraya, Stefan T Arold
Report
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allelic disorders
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HX repeat
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intellectual disability
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developmental delay
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dysmorphic