Resolving pathogenicity of non-truncating ARID1B variants in Coffin-Siris syndrome

被引:0
|
作者
Bosch, Elisabeth [1 ]
Guese, Esther [1 ]
Kirchner, Philipp [1 ]
Hebebrand, Moritz [1 ]
Ekici, Arif B. [1 ]
Reis, Andre [1 ]
Vasileiou, Georgia [1 ]
机构
[1] Friedrich Alexander Univ Erlangen Nurnberg, Univ Klinikum Erlangen, Inst Human Genet, Erlangen, Germany
关键词
D O I
暂无
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
P09.040.D
引用
收藏
页码:467 / 468
页数:2
相关论文
共 50 条
  • [41] Identification of de novo mutations for ARID1B haploinsufficiency associated with Coffin-Siris syndrome 1 in three Chinese families via array-CGH and whole exome sequencing
    Lu, Guanting
    Peng, Qiongling
    Wu, Lianying
    Zhang, Jian
    Ma, Liya
    BMC MEDICAL GENOMICS, 2021, 14 (01)
  • [42] Short stature and melanocytic nevi in a girl with ARID1B-related Coffin-Siris syndrome: a case report
    Dong-Ying Tao
    Huan-Hong Niu
    Jing-Jing Zhang
    Hui-Qin Zhang
    Ming-Hua Zeng
    Sheng-Quan Cheng
    BMC Pediatrics, 22
  • [43] Frameshift Variant in ARID2 in a Chilean Individual with Coffin-Siris Syndrome Phenotype
    Martin Merlez, Fernanda
    Gonzalez Zalazar, Maria
    Castillo Taucher, Silvia
    JOURNAL OF PEDIATRIC GENETICS, 2024, 13 (02) : 149 - 153
  • [44] ARID2, a Rare Cause of Coffin-Siris Syndrome: A Clinical Description of Two Cases
    Wang, Xiaoyan
    Wu, Haiying
    Sun, Hui
    Wang, Lili
    Chen, Linqi
    FRONTIERS IN PEDIATRICS, 2022, 10
  • [45] ARID1B基因变异致Coffin-Siris综合征1型伴低血糖合并癫■1例病例报告
    王金玲
    郝晓强
    张黎
    吴蔚
    董关萍
    黄轲
    中国循证儿科杂志, 2024, 19 (01) : 76 - 78
  • [46] ARID1B基因新发突变致Coffin-Siris综合征1型合并UNC119基因变异1例报道
    罗涵姿
    董小丽
    中国优生与遗传杂志, 2024, 32 (10) : 2143 - 2149
  • [47] Coffin-Siris Syndrome: Case Series of Three Patients and a Novel ARID2 Variant
    Shin, Donghyun
    Lee, Yoo Jung
    Jo, Yoon Hee
    Kong, Juhyun
    Lee, Yun-Jin
    Nam, Sang Ook
    Lee, Bo Lyun
    Oh, Seung Hwan
    Kim, Young Mi
    ANNALS OF CLINICAL AND LABORATORY SCIENCE, 2023, 53 (06): : 959 - 963
  • [48] Epilepsy features in ARID1B-related Coffin- Siris syndrome
    Proietti, Jacopo
    Amadori, Elisabetta
    Striano, Pasquale
    Ricci, Emilia
    Cordelli, Duccio Maria
    Bana, Cristina
    Dilena, Robertino
    Gardella, Elena
    Nielsen, Jens Erik Klint
    Pisani, Francesco
    Lo Barco, Tommaso
    Fiorini, Elena
    Fontana, Elena
    Darra, Francesca
    Dalla Bernardina, Bernardo
    Cantalupo, Gaetano
    EPILEPTIC DISORDERS, 2021, 23 (06) : 865 - 874
  • [49] SMARCE1-related Coffin-Siris Syndrome: Case report and otolaryngologic manifestations of the syndrome
    Reed, Leighton
    Grady, Anthony
    Wilson, Caleb
    Stocks, Rosemary
    INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, 2020, 128
  • [50] ARID2, a milder cause of Coffin-Siris Syndrome? Broadening the phenotype with 17 additional individuals
    Schrier Vergano, Samantha A.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2024, 194 (06)