Additional individuals with CHD7 variants in Chinese and other southeast Asian patients

被引：0
|
作者：
Wei, Heming [1 ]
Tan, Ee-Shien [2 ,3 ]
Jamuar, Saumya [2 ,3 ]
Lai, Angeline H. M. [2 ,3 ]
Ng, Ivy [2 ,3 ]
Tan, Ene-Choo [1 ,3 ]
机构：
[1] KK Womens & Childrens Hosp, Res Lab, Singapore, Singapore
[2] KK Womens & Childrens Hosp, Genet Serv, Singapore, Singapore
[3] SingHlth Duke NUS Grad Med Sch, Pediat Acad Clin Programme, Singapore, Singapore
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2020年 / 182卷 / 10期
基金：
新加坡国家研究基金会;
关键词：
CHARGE SYNDROME; PHENOTYPIC SPECTRUM; MUTATIONS; ASSOCIATION; UPDATE; GENE;
D O I：
10.1002/ajmg.a.61798
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：2461 / 2465
页数：5
相关论文
共 50 条
  • [21] Atypical CHARGE associated with a novel frameshift mutation of CHD7 in a Chinese neonatal patient
    Yan-ping Xu
    Li-ping Shi
    Jiajun Zhu
    BMC Pediatrics, 18
  • [22] Atypical CHARGE associated with a novel frameshift mutation of CHD7 in a Chinese neonatal patient
    Xu, Yan-ping
    Shi, Li-ping
    Zhu, Jiajun
    BMC PEDIATRICS, 2018, 18
  • [23] A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome
    Bergman, Jorieke E. H.
    Janssen, Nicole
    van der Sloot, Almer M.
    de Walle, Hermien E. K.
    Schoots, Jeroen
    Rendtorff, Nanna D.
    Tranebjaerg, Lisbeth
    Hoefsloot, Lies H.
    van Ravenswaaij-Arts, Conny M. A.
    Hofstra, Robert M. W.
    HUMAN MUTATION, 2012, 33 (08) : 1251 - 1260
  • [24] Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation
    Lalani, SR
    Safiullah, AM
    Fernbach, SD
    Harutyunyan, KG
    Thaller, C
    Peterson, LE
    McPherson, JD
    Gibbs, RA
    White, LD
    Hefner, M
    Davenport, SLH
    Graham, JM
    Bacino, CA
    Glass, NL
    Towbin, JA
    Craigen, WJ
    Neish, SR
    Lin, AE
    Belmont, JW
    AMERICAN JOURNAL OF HUMAN GENETICS, 2006, 78 (02) : 303 - 314
  • [25] CHD7 Expression Predicts Survival Outcomes in Patients with Resected Pancreatic Cancer
    Colbert, Lauren E.
    Petrova, Aleksandra V.
    Fisher, Sarah B.
    Pantazides, Brooke G.
    Madden, Matthew Z.
    Hardy, Claire W.
    Warren, Matthew D.
    Pan, Yunfeng
    Nagaraju, Ganji P.
    Liu, Elaine A.
    Saka, Burcu
    Hall, William A.
    Shelton, Joseph W.
    Gandhi, Khanjan
    Pauly, Rini
    Kowalski, Jeanne
    Kooby, David A.
    El-Rayes, Bassel F.
    Staley, Charles A., III
    Adsay, N. Volkan
    Curran, Walter J., Jr.
    Landry, Jerome C.
    Maithel, Shishir K.
    Yu, David S.
    CANCER RESEARCH, 2014, 74 (10) : 2677 - 2687
  • [26] Phenotypic spectrum of patients with mutations in CHD7: clinical implications of endocrinological findings
    Kim, Ja Hye
    Choi, Yunha
    Hwang, Soojin
    Kim, Gu-Hwan
    Yoo, Han-Wook
    Choi, Jin-Ho
    ENDOCRINE CONNECTIONS, 2022, 11 (02)
  • [27] CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome
    Wincent, J.
    Holmberg, E.
    Stromland, K.
    Soller, M.
    Mirzaei, L.
    Djureinovic, T.
    Robinson, K. L.
    Anderlid, B. M.
    Schoumans, J.
    CLINICAL GENETICS, 2008, 74 (01) : 31 - 38
  • [28] Clinical and genetic analysis of the CHD7 gene in Korean patients with CHARGE syndrome
    Lee, Y-W
    Kim, S. C.
    Shin, Y. L.
    Kim, J-W
    Hong, H. S.
    Lee, Y. K.
    Ki, C-S
    CLINICAL GENETICS, 2009, 75 (03) : 290 - 293
  • [29] A novel heterozygous mutation of CHD7 gene in a Chinese patient with Kallmann syndrome: a case report
    Xu, Weiwei
    Zhou, Weibin
    Lin, Haiyang
    Ye, Dan
    Chen, Guoping
    Dong, Fengqin
    Shen, Jianguo
    BMC ENDOCRINE DISORDERS, 2021, 21 (01)
  • [30] Two novel CHD7 variants in patients with typical and mild features of CHARGE syndrome co-occurring with esophageal atresia
    Evanovich, Devon Michael
    O'Donnell-Luria, Anne
    Zendejas, Benjamin
    Bajic, Dusica
    Wang, Jue Teresa
    JOURNAL OF PEDIATRIC SURGERY CASE REPORTS, 2022, 87
12345