换一批Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations.
第一作者：
Seema R,Lalani
第一单位：
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address: seemal@bcm.edu.
作者：
Seema R,Lalani [1]
;
Pengfei,Liu [2]
;
Jill A,Rosenfeld [3]
;
Levi B,Watkin [4]
;
Theodore,Chiang [5]
;
Magalie S,Leduc [2]
;
Wenmiao,Zhu [6]
;
Yan,Ding [5]
;
Shujuan,Pan [3]
;
Francesco,Vetrini [6]
;
Christina Y,Miyake [7]
;
Marwan,Shinawi [8]
;
Tomasz,Gambin [3]
;
Mohammad K,Eldomery [3]
;
Zeynep Hande Coban,Akdemir [3]
;
Lisa,Emrick [9]
;
Yael,Wilnai [10]
;
Susan,Schelley [10]
;
Mary Kay,Koenig [11]
;
Nada,Memon [12]
;
Laura S,Farach [13]
;
Bradley P,Coe [14]
;
Mahshid,Azamian [3]
;
Patricia,Hernandez [3]
;
Gladys,Zapata [3]
;
Shalini N,Jhangiani [15]
;
Donna M,Muzny [15]
;
Timothy,Lotze [16]
;
Gary,Clark [16]
;
Angus,Wilfong [16]
;
Hope,Northrup [13]
;
Adekunle,Adesina [17]
;
Carlos A,Bacino [3]
;
Fernando,Scaglia [3]
;
Penelope E,Bonnen [3]
;
Jane,Crosson [18]
;
Jessica,Duis [19]
;
Gustavo H B,Maegawa [20]
;
David,Coman [21]
;
Anita,Inwood [21]
;
Jim,McGill [21]
;
Eric,Boerwinkle [22]
;
Brett,Graham [3]
;
Art,Beaudet [3]
;
Christine M,Eng [2]
;
Neil A,Hanchard [23]
;
Fan,Xia [2]
;
Jordan S,Orange [4]
;
Richard A,Gibbs [15]
;
James R,Lupski [24]
;
Yaping,Yang [25]
作者单位：
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address: seemal@bcm.edu.
[1]
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Miraca Genetics Laboratories, Houston, TX 77030, USA.
[2]
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
[3]
Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital Center for Human Immuno-Biology, Houston, TX 77030, USA.
[4]
Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
[5]
Baylor Miraca Genetics Laboratories, Houston, TX 77030, USA.
[6]
Department of Pediatric Cardiology, Texas Children's Hospital, Houston, TX 77030, USA.
[7]
Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA.
[8]
Division of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA.
[9]
Division of Medical Genetics, Stanford School of Medicine, Stanford, CA 94304, USA.
[10]
Division of Child & Adolescent Neurology, Department of Pediatrics, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA.
[11]
Division of Cardiology, DCH Regional Medical Center, Tuscaloosa, AL 35401, USA.
[12]
Division of Medical Genetics, Department of Pediatrics, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA.
[13]
Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.
[14]
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
[15]
Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Division of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA.
[16]
Department of Pathology, Texas Children's Hospital, Houston, TX 77030, USA.
[17]
Division of Pediatric Cardiology, The Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
[18]
Mckusick-Nathans Inst. of Genetic Medicine & Department of Pediatrics, The Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
[19]
Mckusick-Nathans Inst. of Genetic Medicine & Department of Pediatrics, The Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Pediatrics, Division of Genetics & Metabolism, University of Florida, Gainsville, FL 32610, USA.
[20]
Department of Metabolic Medicine, Lady Cilento Children's Hospital, South Brisbane, QLD 4101, Australia.
[21]
Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Human Genetics Center, School of Public Health, University of Houston Health Science Center, Houston, TX 77030, USA.
[22]
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.
[23]
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.
[24]
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Miraca Genetics Laboratories, Houston, TX 77030, USA. Electronic address: yapingy@bcm.edu.
[25]
医学主题词
等位基因(Alleles);阿拉伯人(Arabs);心律失常, 心性(Arrhythmias, Cardiac);碱基序列(Base Sequence);儿童(Child);儿童, 学龄前(Child, Preschool);外显子(Exons);女(雌)性(Female);基因缺失(Gene Deletion);高尔基体(Golgi Apparatus);纯合子(Homozygote);人类(Humans);婴儿(Infant);男(雄)性(Male);分子序列数据(Molecular Sequence Data);肌无力(Muscle Weakness);系谱(Pedigree);横纹肌溶解(Rhabdomyolysis)
DOI
10.1016/j.ajhg.2015.12.008
PMID
26805781
发布时间
2024-09-25
- 浏览51
American journal of human genetics
相似文献
- 中文期刊
- 外文期刊
- 学位论文
- 会议论文
