Literature DB >> 31879022

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.

Raphael Carapito, Ekaterina L Ivanova, Aurore Morlon, Linyan Meng, Anne Molitor, Eva Erdmann, Bruno Kieffer, Angélique Pichot, Lydie Naegely, Aline Kolmer, Nicodème Paul, Antoine Hanauer, Frédéric Tran Mau-Them, Nolwenn Jean-Marçais, Susan M Hiatt, Gregory M Cooper, Tatiana Tvrdik, Alison M Muir, Clémantine Dimartino, Maya Chopra, Jeanne Amiel, Christopher T Gordon, Fabien Dutreux, Aurore Garde, Christel Thauvin-Robinet, Xia Wang, Magalie S Leduc, Meredith Phillips, Heather P Crawford, Mary K Kukolich, David Hunt, Victoria Harrison, Mira Kharbanda, Robert Smigiel, Nina Gold, Christina Y Hung, David H Viskochil, Sarah L Dugan, Pinar Bayrak-Toydemir, Géraldine Joly-Helas, Anne-Marie Guerrot, Caroline Schluth-Bolard, Marlène Rio, Ingrid M Wentzensen, Kirsty McWalter, Rhonda E Schnur, Andrea M Lewis, Seema R Lalani, Noël Mensah-Bonsu, Jocelyn Céraline, Zijie Sun, Rafal Ploski, Carlos A Bacino, Heather C Mefford, Laurence Faivre, Olaf Bodamer, Jamel Chelly, Bertrand Isidor, Seiamak Bahram.   

Abstract

Entities:  

Year:  2019        PMID: 31879022      PMCID: PMC7042478          DOI: 10.1016/j.ajhg.2019.11.014

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN: 0002-9297            Impact factor:   11.025


× No keyword cloud information.
  1 in total

1.  Compound Heterozygote of Point Mutation and Chromosomal Microdeletion Involving OTUD6B Coinciding with ZMIZ1 Variant in Syndromic Intellectual Disability.

Authors:  Tim Phetthong; Arthaporn Khongkrapan; Natini Jinawath; Go-Hun Seo; Duangrurdee Wattanasirichaigoon
Journal:  Genes (Basel)       Date:  2021-10-07       Impact factor: 4.096

  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.