NOVEL HDAC8 MUTATION IN FEMALE PATIENT WITH CORNELIA DE LANGE SYNDROME-LIKE PHENOTYPE

被引：0
|
作者：
Moeschler, John B. [1 ]
Ozmore, Jillian R. [1 ]
Upton, Sheila [1 ]
Vallee, Stephanie [1 ]
Dinulos, Mary Beth [1 ]
机构：
[1] Geisel Sch Med Dartmouth, Dartmouth Hitchcock Med Ctr, Med Genet Sect, Lebanon, NH USA
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2015年 / 167卷 / 08期
关键词：
D O I：
暂无
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：1708 / 1708
页数：1
相关论文
共 50 条
  • [1] A novel de novo HDAC8 missense mutation causing Cornelia de Lange syndrome
    Mio, Catia
    Passon, Nadia
    Fogolari, Federico
    Cesario, Claudia
    Novelli, Antonio
    Pittini, Carla
    Damante, Giuseppe
    [J]. MOLECULAR GENETICS & GENOMIC MEDICINE, 2021, 9 (09):
  • [2] A Functional Mutation in HDAC8 Gene as Novel Diagnostic Marker for Cornelia De Lange Syndrome
    Gao, Xueren
    Huang, Zhuo
    Fan, Yanjie
    Sun, Yu
    Liu, Huili
    Wang, Lili
    Gu, Xuefan
    Yu, Yongguo
    [J]. CELLULAR PHYSIOLOGY AND BIOCHEMISTRY, 2018, 47 (06) : 2388 - 2395
  • [3] Novel variant in HDAC8 gene resulting in the severe Cornelia de Lange phenotype
    Jezela-Stanek, Aleksandra
    Pienkowski, Victor Murcia
    Jurkiewicz, Dorota
    Iwanicka-Pronicka, Katarzyna
    Jedrzejowska, Maria
    Krajewska-Walasek, Malgorzata
    Ploski, Rafal
    [J]. CLINICAL DYSMORPHOLOGY, 2019, 28 (03) : 124 - 128
  • [4] Exome sequencing identifies a de novo mutation in HDAC8 associated with Cornelia de Lange syndrome
    Feng, Lei
    Zhou, Daizhan
    Zhang, Zhou
    Liu, Yun
    Yang, Yabo
    [J]. JOURNAL OF HUMAN GENETICS, 2014, 59 (09) : 536 - 539
  • [5] Exome sequencing identifies a de novo mutation in HDAC8 associated with Cornelia de Lange syndrome
    Lei Feng
    Daizhan Zhou
    Zhou Zhang
    Yun Liu
    Yabo Yang
    [J]. Journal of Human Genetics, 2014, 59 : 536 - 539
  • [6] A Novel Intragenic Duplication in the HDAC8 Gene Underlying a Case of Cornelia de Lange Syndrome
    Lucia-Campos, Cristina
    Valenzuela, Irene
    Latorre-Pellicer, Ana
    Ros-Pardo, David
    Gil-Salvador, Marta
    Arnedo, Maria
    Puisac, Beatriz
    Castells, Neus
    Plaja, Alberto
    Tenes, Anna
    Cusco, Ivon
    Trujillano, Laura
    Ramos, Feliciano J.
    Tizzano, Eduardo F.
    Gomez-Puertas, Paulino
    Pie, Juan
    [J]. GENES, 2022, 13 (08)
  • [7] A commentary on exome sequencing identifies a de novo mutation in HDAC8 associated with Cornelia de Lange syndrome
    Sun, Liangdan
    [J]. JOURNAL OF HUMAN GENETICS, 2014, 59 (09) : 479 - 479
  • [8] A commentary on exome sequencing identifies a de novo mutation in HDAC8 associated with Cornelia de Lange syndrome
    Liangdan Sun
    [J]. Journal of Human Genetics, 2014, 59 : 479 - 479
  • [9] Erratum: Exome sequencing identifies a de novo mutation in HDAC8 associated with Cornelia de Lange syndrome
    Lei Feng
    Daizhan Zhou
    Zhou Zhang
    Yun Liu
    Yabo Yang
    [J]. Journal of Human Genetics, 2015, 60 : 165 - 165
  • [10] Molecular characterization of HDAC8 deletions in individuals with atypical Cornelia de Lange syndrome
    Maria Helgeson
    Jennifer Keller-Ramey
    Amy Knight Johnson
    Jennifer A. Lee
    Daniel B. Magner
    Brett Deml
    Jacea Deml
    Ying-Ying Hu
    Zejuan Li
    Kirsten Donato
    Soma Das
    Rachel Laframboise
    Sandra Tremblay
    Ian Krantz
    Sarah Noon
    George Hoganson
    Jennifer Burton
    Christian P. Schaaf
    Daniela del Gaudio
    [J]. Journal of Human Genetics, 2018, 63 : 349 - 356
12345