换一批
换一批Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder.
作者：
Caroline M,Dias [1]
;
Jaya,Punetha [2]
;
Céline,Zheng [3]
;
Neda,Mazaheri [4]
;
Abolfazl,Rad [5]
;
Stephanie,Efthymiou [6]
;
Andrea,Petersen [7]
;
Mohammadreza,Dehghani [8]
;
Davut,Pehlivan [9]
;
Jennifer N,Partlow [10]
;
Jennifer E,Posey [2]
;
Vincenzo,Salpietro [6]
;
Alper,Gezdirici [11]
;
Reza Azizi,Malamiri [12]
;
Nihal M,Al Menabawy [13]
;
Laila A,Selim [13]
;
Mohammad Yahya,Vahidi Mehrjardi [8]
;
Selina,Banu [14]
;
Daniel L,Polla [15]
;
Edward,Yang [16]
;
Jamileh,Rezazadeh Varaghchi [17]
;
Tadahiro,Mitani [2]
;
Ellen,van Beusekom [18]
;
Maryam,Najafi [19]
;
Alireza,Sedaghat [20]
;
Jennifer,Keller-Ramey [21]
;
Leslie,Durham [7]
;
Zeynep,Coban-Akdemir [2]
;
Ender,Karaca [22]
;
Valeria,Orlova [3]
;
Lieke L M,Schaeken [18]
;
Amir,Sherafat [23]
;
Shalini N,Jhangiani [24]
;
Valentina,Stanley [25]
;
Gholamreza,Shariati [26]
;
Hamid,Galehdari [27]
;
Joseph G,Gleeson [25]
;
Christopher A,Walsh [10]
;
James R,Lupski [28]
;
Elena,Seiradake [3]
;
Henry,Houlden [6]
;
Hans,van Bokhoven [18]
;
Reza,Maroofian [29]
作者单位：
Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Division of Developmental Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
[1]
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
[2]
Department of Biochemistry, University of Oxford, South Parks Road, Oxford, OX1 3QU, UK.
[3]
Department of Genetics, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, 6135783151, Iran; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, 6155689467, Iran.
[4]
Cellular and Molecular Research Center, Sabzevar University of Medical Sciences, Sabzevar, 009851, Iran; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB, Nijmegen, the Netherlands.
[5]
Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, WC1N 3BG, London, UK.
[6]
Randall Children's Hospital at Legacy Emanuel, Portland, OR 97227, USA.
[7]
Medical Genetics Research Centre, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
[8]
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.
[9]
Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA 02115, USA.
[10]
Department of Medical Genetics, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul, 34303, Turkey.
[11]
Department of Paediatric Neurology, Golestan Medical, Educational, and Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz 6163764648, Iran.
[12]
Pediatric Neurology and Metabolic Division, Cairo University Children Hospital, Egypt.
[13]
Department of Pediatric Neurology, ICH and SSF Hospital Mirpur, Dhaka, 1216, Bangladesh.
[14]
Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB, Nijmegen, the Netherlands; CAPES Foundation, Ministry of Education of Brazil, 549 Brasília, Brazil.
[15]
Department of Radiology, Boston Children's Hospital, Boston, MA 02115, USA.
[16]
Hasti Genetic Counseling Center of Welfare Organization of Southern Khorasan, Birjand, Iran.
[17]
Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB, Nijmegen, the Netherlands.
[18]
Genome Research Division, Human Genetics Department, Radboud University Medical Center, 6500 HB, Nijmegen, the Netherlands.
[19]
Health Research Institute, Diabetes Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
[20]
GeneDx, Gaithersburg, MD 20877, USA.
[21]
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
[22]
Department of Neurology, Faculty of Medicine, Bam University of Medical Sciences, Bam, Iran.
[23]
Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
[24]
Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.
[25]
Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, 6155689467, Iran; Department of Medical Genetics, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz 6135715794, Iran.
[26]
Department of Genetics, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, 6135783151, Iran.
[27]
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; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.
[28]
Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, WC1N 3BG, London, UK. Electronic address: r.maroofian@ucl.ac.uk.
[29]
主题词
青少年(Adolescent);成年人(Adult);儿童(Child);儿童, 学龄前(Child, Preschool);女(雌)性(Female);GPI连接蛋白质类(GPI-Linked Proteins);纯合子(Homozygote);人类(Humans);男(雄)性(Male);突变, 误义(Mutation, Missense);系谱(Pedigree);青年人(Young Adult)
DOI
10.1016/j.ajhg.2019.09.025
PMID
31668703
发布时间
2023-10-19
- 浏览4
American journal of human genetics
American journal of human genetics
1048-1056页
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