Molecular and Clinical data of two patients with Kabuki syndrome: reporting a novel pathogenic variant

被引：0
|
作者：
Amllal, Nada [1 ,2 ]
Zerkaoui, Maria [3 ]
Jdioui, Wafaa [3 ]
Sefiani, Abdelaziz [1 ,2 ]
Elalaoui, Siham Chafai [3 ]
Jaber, Lyahyai [1 ]
机构：
[1] Univ Mohammed 5, Res Team Genom & Mol Epidemiol Genet Dis, Fac Med & Pharm Rabat, Genopath Ctr, Rabat, Morocco
[2] NIH, Med Genet, Rabat, Morocco
[3] Ibn Sina CHU, Med Genet Unit, Rabat, Morocco
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：
EP10.047
引用
收藏
页码：1057 / 1057
页数：1
相关论文
共 50 条
  • [31] Kabuki syndrome complicated by severe immune thrombocytopenia and autoimmune thyroiditis: Identification of a novel pathogenic mutation
    Qu, Xinmiao
    Xue, Feng
    Liu, Wei
    Chen, Yunfei
    Ju, Mankai
    Sun, Ting
    Dong, Huan
    Dai, Xinyue
    Gu, Wenjing
    Li, Huiyuan
    Wang, Wentian
    Chi, Ying
    Yang, Renchi
    Liu, Xiaofan
    Zhang, Lei
    Fu, Rongfeng
    BRITISH JOURNAL OF HAEMATOLOGY, 2024, 205 (01) : 347 - 351
  • [32] Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome
    Hideo Kuniba
    Koh-ichiro Yoshiura
    Tatsuro Kondoh
    Hirofumi Ohashi
    Kenji Kurosawa
    Hidefumi Tonoki
    Toshiro Nagai
    Nobuhiko Okamoto
    Mitsuhiro Kato
    Yoshimitsu Fukushima
    Tadashi Kaname
    Kenji Naritomi
    Tadashi Matsumoto
    Hiroyuki Moriuchi
    Tatsuya Kishino
    Akira Kinoshita
    Noriko Miyake
    Naomichi Matsumoto
    Norio Niikawa
    Journal of Human Genetics, 2009, 54 : 304 - 309
  • [33] Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome
    Kuniba, Hideo
    Yoshiura, Koh-ichiro
    Kondoh, Tatsuro
    Ohashi, Hirofumi
    Kurosawa, Kenji
    Tonoki, Hidefumi
    Nagai, Toshiro
    Okamoto, Nobuhiko
    Kato, Mitsuhiro
    Fukushima, Yoshimitsu
    Kaname, Tadashi
    Naritomi, Kenji
    Matsumoto, Tadashi
    Moriuchi, Hiroyuki
    Kishino, Tatsuya
    Kinoshita, Akira
    Miyake, Noriko
    Matsumoto, Naomichi
    Niikawa, Norio
    JOURNAL OF HUMAN GENETICS, 2009, 54 (05) : 304 - 309
  • [34] Hearing characteristics and otoradiological abnormalities in three patients with novel pathogenic variants of KMT2D-related Kabuki syndrome
    Zheng, Zhoushu
    Ding, Lu
    Wang, Meihong
    Zhang, Yinghui
    Yang, Yihui
    Tang, Ming
    Xu, Jun
    Wang, Liangjiong
    Wu, Junhua
    Li, Haibo
    MOLECULAR GENETICS & GENOMIC MEDICINE, 2024, 12 (01):
  • [35] Case Report: Novel pathogenic variant in NFIX in two sisters with Malan syndrome due to germline mosaicism
    Langley, Elizabeth
    Farach, Laura S.
    Mowrey, Kate
    FRONTIERS IN GENETICS, 2022, 13
  • [36] A novel pathogenic variant in the CHRNG gene linked to Escobar variant of multiple pterygium syndrome
    Kathom, H.
    Avdjieva-Tzavella, D.
    Delchev, T.
    Atemin, S.
    Todorov, T.
    Maver, A.
    Peterlin, B.
    Mitev, V.
    Todorova, A.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (SUPPL 1) : 838 - 838
  • [37] A novel pathogenic compound heterozygous variant in C12orf57 gene in a child with Temtamy syndrome presenting with overlapping phenotypic features of Kabuki-like syndrome
    Nerakh, Gayatri
    Vasikarla, Madhavi
    BRAIN & DEVELOPMENT, 2023, 45 (09): : 512 - 516
  • [38] Description of the molecular and phenotypic spectrum of Kabuki syndrome in 73 Chinese patients
    Wang, Y.
    Shen, Y.
    Wang, J.
    Wang, X.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (SUPPL 1) : 467 - 468
  • [39] A Novel Intronic KMT2D Variant as a Cause of Kabuki Syndrome: A Case Report
    Aristizabal, Erica
    Diaz-Ordonez, Lorena
    Candelo, Estephania
    Pachajoa, Harry
    APPLICATION OF CLINICAL GENETICS, 2021, 14 : 409 - 416
  • [40] Novel heterozygous NOTCH3 pathogenic variant found in two Chinese patients with CADASIL
    Li, Shufeng
    Chen, Yifan
    Shan, Haitao
    Ma, Fang
    Shi, Minke
    Xue, Jun
    JOURNAL OF CLINICAL NEUROSCIENCE, 2017, 46 : 85 - 89
12345