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：
Dias, Caroline M. [1]
;
Punetha, Jaya [2]
;
Zheng, Celine [3]
;
Mazaheri, Neda [4]
;
Rad, Abolfazl [5]
;
Efthymiou, Stephanie [6]
;
Petersen, Andrea [7]
;
Dehghani, Mohammadreza [8]
;
Pehlivan, Davut [9]
;
Partlow, Jennifer N. [10]
;
Posey, Jennifer E. [11]
;
Salpietro, Vincenzo [12]
;
Gezdirici, Alper [13]
;
Malamiri, Reza Azizi [14]
;
Al Menabawy, Nihal M. [15]
;
Selim, Laila A. [16]
;
Mehrjardi, Mohammad Yahya Vahidi [17]
;
Banu, Selina [18]
;
Polla, Daniel L. [19]
;
Yang, Edward [20]
;
Varaghchi, Jamileh Rezazadeh [21]
;
Mitani, Tadahiro [22]
;
van Beusekom, Ellen ;
Najafi, Maryam ;
Sedaghat, Alireza ;
Keller-Ramey, Jennifer ;
Durham, Leslie ;
Coban-Akdemir, Zeynep ;
Karaca, Ender ;
Orlova, Valeria ;
Schaeken, Lieke L. M. ;
Sherafat, Amir ;
Jhangiani, Shalini N. ;
Stanley, Valentina ;
Shariati, Gholamreza ;
Galehdari, Hamid ;
Gleeson, Joseph G. ;
Walsh, Christopher A. ;
Lupski, James R. ;
Seiradake, Elena ;
Houlden, Henry ;
van Bokhoven, Hans ;
Maroofian, Reza
作者单位：
Univ Oxford, Dept Biochem, South Parks Rd, Oxford OX1 3QU, England
[1]
Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Genome Res Div, NL-6500 HB Nijmegen, Netherlands
[2]
Harvard Med Sch, Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 USA
[3]
Radboud Univ Nijmegen, Med Ctr, Donders Inst Brain Cognit & Behav, Dept Human Genet, NL-6500 HB
[4]
Welf Org Southern Khorasan, Hasti Genet Counseling Ctr, Birjand, Iran
[5]
Boston Childrens Hosp, Dept Radiol, Boston, MA 02115 USA
[6]
Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA
[7]
GeneDx, Gaithersburg, MD 20877 USA
[8]
Univ Calif San Diego, Howard Hughes Med Inst, Dept Neurosci, Lab Pediat Brain Dis, La Jolla, CA
[9]
Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA
[10]
Narges Med Genet & Prenatal Diag Lab, Ahwaz 6155689467, Iran
[11]
Ahvaz Jundishapur Univ Med Sci, Diabet Res Ctr, Hlth Res Inst, Ahwaz, Iran
[12]
Bam Univ Med Sci, Dept Neurol, Fac Med, Bam, Iran
[13]
ICH & SSF Hosp Mirpur, Dept Pediat Neurol, Dhaka 1216, Bangladesh
[14]
Shahid Chamran Univ Ahvaz, Dept Genet, Fac Sci, Ahwaz 6135783151, Iran
[15]
Shahid Sadoughi Univ Med Sci, Med Genet Res Ctr, Yazd, Iran
[16]
Kanuni Sultan Suleyman Training & Res Hosp, Dept Med Genet, TR-34303 Istanbul, Turkey
[17]
Cairo Univ, Children Hosp, Pediat Neurol & Metab Div, Giza, Egypt
[18]
UCL, Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London WC1N 3BG, England
[19]
Randall Childrens Hosp Legacy Emanuel, Portland, OR 97227 USA
[20]
Sabzevar Univ Med Sci, Cellular & Mol Res Ctr, Sabzevar 009851, Iran
[21]
Ahvaz Jundishapur Univ Med Sci, Golestan Med Educ & Res Ctr, Dept Paediat Neurol, Ahwaz 6163764648
[22]
发布时间
2021-01-13
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The American Journal of Human Genetics
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