A novel splicing variant of KDM6A in a family with Kabuki Syndrome 2

被引：0
|
作者：
Geckinli, Bilgen Bilge [1 ]
Ersoy, Aysenur [1 ]
Hanoglu, Onur [1 ]
Yuce, Vedat [1 ]
Soylemez, Mehmet Ali [1 ]
Arman, Ahmet [1 ]
机构：
[1] Marmara Univ, Fac Med, Dept Med Genet, Istanbul, Turkyie
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2024年 / 32卷
关键词：
D O I：
暂无
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
EP10.007
引用
收藏
页码：1043 / 1043
页数：1
相关论文
共 50 条
  • [1] KDM6A Point Mutations Cause Kabuki Syndrome
    Miyake, Noriko
    Mizuno, Seiji
    Okamoto, Nobuhiko
    Ohashi, Hirofumi
    Shiina, Masaaki
    Ogata, Kazuhiro
    Tsurusaki, Yoshinori
    Nakashima, Mitsuko
    Saitsu, Hirotomo
    Niikawa, Norio
    Matsumoto, Naomichi
    HUMAN MUTATION, 2013, 34 (01) : 108 - 110
  • [2] MLL2 and KDM6A Mutations in Patients With Kabuki Syndrome
    Miyake, Noriko
    Koshimizu, Eriko
    Okamoto, Nobuhiko
    Mizuno, Seiji
    Ogata, Tsutomu
    Nagai, Toshiro
    Kosho, Tomoki
    Ohashi, Hirofumi
    Kato, Mitsuhiro
    Sasaki, Goro
    Mabe, Hiroyo
    Watanabe, Yoriko
    Yoshino, Makoto
    Matsuishi, Toyojiro
    Takanashi, Jun-ichi
    Shotelersuk, Vorasuk
    Tekin, Mustafa
    Ochi, Nobuhiko
    Kubota, Masaya
    Ito, Naoko
    Ihara, Kenji
    Hara, Toshiro
    Tonoki, Hidefumi
    Ohta, Tohru
    Saito, Kayoko
    Matsuo, Mari
    Urano, Mari
    Enokizono, Takashi
    Sato, Astushi
    Tanaka, Hiroyuki
    Ogawa, Atsushi
    Fujita, Takako
    Hiraki, Yoko
    Kitanaka, Sachiko
    Matsubara, Yoichi
    Makita, Toshio
    Taguri, Masataka
    Nakashima, Mitsuko
    Tsurusaki, Yoshinori
    Saitsu, Hirotomo
    Yoshiura, Ko-ichiro
    Matsumoto, Naomichi
    Niikawa, Norio
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2013, 161 (09) : 2234 - 2243
  • [3] Novel KDM6A mutation in a Chinese infant with Kabuki syndrome: A case report
    Hong-Xian Guo
    Bao-Wei Li
    Mei Hu
    Shao-Yan Si
    Kai Feng
    World Journal of Clinical Cases, 2021, 9 (33) : 10257 - 10264
  • [4] Novel KDM6A mutation in a Chinese infant with Kabuki syndrome: A case report
    Guo, Hong-Xian
    Li, Bao-Wei
    Hu, Mei
    Si, Shao-Yan
    Feng, Kai
    WORLD JOURNAL OF CLINICAL CASES, 2021, 9 (33) : 10257 - 10264
  • [5] Kabuki Syndrome: Identification of Two Novel Variants in KMT2Dand KDM6A
    Khodaeian, Mehrnoosh
    Jafarinia, Ehsan
    Bitarafan, Fatemeh
    Shafeii, Shohreh
    Almadani, Navid
    Daneshmand, Mohammad Ali
    Garshasbi, Masoud
    MOLECULAR SYNDROMOLOGY, 2021, 12 (02) : 118 - 126
  • [6] Integrated facial analysis and targeted sequencing identifies a novel KDM6A pathogenic variant resulting in Kabuki syndrome
    Shi Weihui
    Chen Yiyao
    Chen Songchang
    Li Shuyuan
    Chang Chunxin
    Zhang Lanlan
    Fei Hongjun
    Huang Hefeng
    Zhang Junyu
    Xu Chenming
    生物组学研究杂志（英文）, 2018, 1 (03) : 140 - 146
  • [7] A novel missense mutation of the KDM6A gene in an Albanian female patient with Kabuki type 2 syndrome
    Babameto-Laku, Anila
    Gjikopulli, Agim
    Bushati, Aida
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2023, 31 : 229 - 229
  • [8] Coinheritance of Novel Mutations in SCN1A Causing GEFS plus and in KDM6A Causing Kabuki Syndrome in a Family
    Kim, Jisun
    Lee, Cha Gon
    ANNALS OF CLINICAL AND LABORATORY SCIENCE, 2017, 47 (02): : 229 - 235
  • [9] Novel KDM6A Kabuki Syndrome Mutation With Hyperinsulinemic Hypoglycemia and Pulmonary Hypertension Requiring ECMO
    Salguero, Maria, V
    Chan, Karen
    Greeley, Siri Atma W.
    Dyamenahalli, Umesh
    Waggoner, Darrel
    Del Gaudio, Daniela
    Rajiyah, Tara
    Lemelman, Michelle
    JOURNAL OF THE ENDOCRINE SOCIETY, 2022, 6 (04)
  • [10] A Three Generation X-Linked Family With Kabuki Syndrome Phenotype and a Frameshift Mutation in KDM6A
    Lederer, Damien
    Shears, Debbie
    Benoit, Valerie
    Verellen-Dumoulin, Christine
    Maystadt, Isabelle
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2014, 164 (05) : 1289 - 1292
12345