About: 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   Goto Sponge  NotDistinct  Permalink

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  • Burkardt Deepika D'Cunha, Zachariou Anna, Loveday Chey, Allen Clare, Amor David, Ardissone Anna, Banka Siddharth, Bourgois Alexia, Coubes Christine, Cytrynbaum Cheryl, Faivre Laurence, Gérard Marion, Horton Rachel, Kotzot Dieter, Lay-Son Guillermo, Lees Melissa, Low Karen, Luk Ho-Ming, Mark Paul, McConkie-Rosell Allyn, McDonald Marie, Pappas John, Phillipe Christophe, Shears Deborah, Skotko Brian, Stewart Fiona, Stewart Helen, Temple I Karen, Mau-Them Frederic, Verdugo Ricardo, Weksberg Rosanna, Zarate Yuri, Graham John, Tatton-Brown Katrina. 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. American Journal of Medical Genetics Part A, Wiley, 2019, 179 (10), pp.2049-2055. ⟨10.1002/ajmg.a.61321⟩
  • BurkardtDeepika d'Cunha, ZachariouAnna, LovedayChey, AllenClare, AmorDavid, ArdissoneAnna, BankaSiddharth, BourgoisAlexia, CoubesChristine, CytrynbaumCheryl, FaivreLaurence, GérardMarion, HortonRachel, KotzotDieter, Lay-SonGuillermo, LeesMelissa, LowKaren, LukHo-Ming, MarkPaul, Mcconkie-RosellAllyn, McdonaldMarie, PappasJohn, PhillipeChristophe, ShearsDeborah, SkotkoBrian, StewartFiona, StewartHelen, TempleI Karen, Mau-ThemFrederic, VerdugoRicardo, WeksbergRosanna, ZarateYuri, GrahamJohn, Tatton-BrownKatrina . 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 . American Journal of Medical Genetics Part A, 2019, 179 (10), pp.2049-2055 . ⟨10.1002/ajmg.a.61321⟩
Title
  • 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
dc:date
  • 2019
Digital Object Identifier (DOI)
  • 10.1002/ajmg.a.61321
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