HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals

Deepika D'Cunha Burkardt, Anna Zachariou, Chey Loveday, Clare L Allen, David J Amor, Anna Ardissone, Siddharth Banka, Alexia Bourgois, Christine Coubes, Cheryl Cytrynbaum, Laurence Faivre, Gerard Marion, Rachel Horton, Dieter Kotzot, Guillermo Lay-Son, Melissa Lees, Karen Low, Ho-Ming Luk, Paul Mark, Allyn McConkie-RosellMarie McDonald, John Pappas, Christophe Phillipe, Deborah Shears, Brian Skotko, Fiona Stewart, I Karen Temple, Frederic T Mau-Them, Ricardo A Verdugo, Rosanna Weksberg, Yuri A Zarate, John M Graham, Katrina Tatton-Brown

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Biochemistry, Genetics and Molecular Biology