heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt : A study to clarify the HIST 1 H 1 E 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-Rosell | Marie McDonald | John Pappas | Christophe Phillipe | Deborah Shears | Brian Skotko | Fiona Stewart | Helen Stewart | I Karen. Temple | Frederic T. Mau-Them | Ricardo A. Verdugo | Rosanna Weksberg | Yuri A. Zarate | John M. Graham | Katrina Tatton-Brown