A case of cockayne syndrome: a novel homozygous missense variant

被引：0
|
作者：
Kandemir, N. [1 ]
Karaduman, N. K. [1 ]
Arslan, S. B. [1 ]
Baysal, K. [1 ]
Dundar, M. [1 ]
机构：
[1] Erciyes Univ, Dept Med Genet, Kayseri, Turkey
来源：
JOURNAL OF BIOTECHNOLOGY | 2019年 / 305卷
关键词：
D O I：
10.1016/j.jbiotec.2019.05.304
中图分类号：
Q81 [生物工程学（生物技术）]; Q93 [微生物学];
学科分类号：
071005 ; 0836 ; 090102 ; 100705 ;
摘要：
PP-APR13-0
引用
收藏
页码：S88 / S88
页数：1
相关论文
共 50 条
  • [1] Cockayne syndrome in an Iranian pedigree with a homozygous missense variant in the ERCC6 gene
    Nikfar, Ali
    Mansouri, Mojdeh
    Chiti, Hossein
    Abhari, Gita Fatemi
    Parsamanesh, Negin
    GENE REPORTS, 2022, 29
  • [2] Novel homozygous ADAMTS17 missense variant in Weill-Marchesani syndrome
    Na Miao
    Yao Zhang
    Jin-Ying Liao
    Lin Zhou
    Ji-Cai He
    Rong-Qin Yang
    Xu-Yang Liu
    Li Tang
    International Journal of Ophthalmology, 2023, (05) : 694 - 699
  • [3] Novel homozygous ADAMTS17 missense variant in Weill- Marchesani syndrome
    Miao, Na
    Zhang, Yao
    Liao, Jin-Ying
    Zhou, Lin
    He, Ji-Cai
    Yang, Rong-Qin
    Liu, Xu-Yang
    Tang, Li
    INTERNATIONAL JOURNAL OF OPHTHALMOLOGY, 2023, 16 (05) : 694 - 699
  • [4] A novel homozygous TSGA10 missense variant causes acephalic spermatozoa syndrome in a Pakistani family
    Khalid Khan
    Xiangjun Zhang
    Sobia Dil
    Ihsan Khan
    Ahsanullah Unar
    Jingwei Ye
    Aurang Zeb
    Muhammad Zubair
    Wasim Shah
    Huan Zhang
    Muzammil Ahmad Khan
    Limin Wu
    Bo Xu
    Hui Ma
    Zina Wen
    Qinghua Shi
    Basic and Clinical Andrology, 34
  • [5] A novel homozygous missense variant identified in the myosin VIIA motor domain of a Moroccan patient with usher syndrome
    Ouarhache, Maryem
    Kettani, Oussama
    El Fizazi, Khawla
    Bouguenouch, Laila
    Ouldim, Karim
    MOLECULAR BIOLOGY REPORTS, 2024, 51 (01)
  • [6] A novel homozygous TSGA10 missense variant causes acephalic spermatozoa syndrome in a Pakistani family
    Khan, Khalid
    Zhang, Xiangjun
    Dil, Sobia
    Khan, Ihsan
    Unar, Ahsanullah
    Ye, Jingwei
    Zeb, Aurang
    Zubair, Muhammad
    Shah, Wasim
    Zhang, Huan
    Khan, Muzammil Ahmad
    Wu, Limin
    Xu, Bo
    Ma, Hui
    Wen, Zina
    Shi, Qinghua
    BASIC AND CLINICAL ANDROLOGY, 2024, 34 (01)
  • [7] A Novel Homozygous Missense ZP1 Variant Result in Human Female Empty Follicle Syndrome
    He, Pei
    Liu, Siping
    Shi, Xiao
    Huang, Chuyu
    Li, Wenfeng
    Wu, Jiamin
    Li, Huixi
    Liu, Junting
    Wen, Yuyuan
    Zhang, Weiqing
    Qiu, Zhuolin
    Luo, Chen
    Hua, Rui
    CLINICAL GENETICS, 2025, 107 (02) : 147 - 156
  • [8] A novel primary atopic disorder associated with a homozygous missense variant in OSMR
    Sharma, Mehul
    Michalski, Christina
    Del Bel, Kate
    Lu, Henry
    Sharma, Ashish
    Tarailo-Graovac, Maja
    Modi, Bhavi
    Drogemoller, Britt
    Rohner, Geraldine Blanchard
    Senger, Christof
    Rehmus, Wingfield
    Prendiville, Julie
    Ross, Colin
    van Karnebeek, Clara
    Wasserman, Wyeth
    Lavoie, Pascal
    McKinnon, Margaret
    Turvey, Stuart
    JOURNAL OF CLINICAL IMMUNOLOGY, 2021, 41 (SUPPL 1) : S5 - S6
  • [9] Whole-exome sequencing revealed a novel homozygous missense variant in OSGEP gene: a case report of Galloway–Mowat syndrome in Iran
    Emran Esmaeilzadeh
    Arman Moradi
    Hamid Reza Khorram Khorshid
    CEN Case Reports, 2023, 12 : 374 - 377
  • [10] Functional analysis of a novel homozygous missense IVD gene variant: a case report with dual genetic diagnoses
    Zhu, Yuying
    Wu, Ke
    Wen, Hanying
    FRONTIERS IN PEDIATRICS, 2025, 13
12345