ARID1B基因变异致Coffin-Siris综合征1例报告并文献复习

[1] Coffin-Siris综合征1例报告 [J]. 临床儿科杂志, 2020, 38 (09) : 704 - 706

[2] 新生儿SMARCB1突变型Coffin-Siris综合征伴先天性膈膨升1例 [J]. 广东医学, 2020, 41 (09) : 971 - 973

[3] 一例Coffin-Siris综合征患儿的临床表型及遗传学分析 [J]. 中华医学遗传学杂志, 2018, 35 (05) : 707 - 710

[4] Coffin-Siris Syndrome-1: Report of five cases from Asian populations with truncating mutations in the ARID1B gene[J] . Sophie Lian,Teck Wah Ting,Angeline H.M. Lai,Ee-Shien Tan,Heming Wei,Breana Cham,Ene-Choo Tan.Journal of the Neurological Sciences . 2020 (prep)

[5] First Korean Case of Coffin-Siris Syndrome with a Novel Frameshift ARID1B Mutation [J]. ANNALS OF CLINICAL AND LABORATORY SCIENCE, 2020, 50 (01): : 140 - 145

[6] De novo splice site variant of ARID1B associated with pathogenesis of Coffin-Siris syndrome [J]. MOLECULAR GENETICS & GENOMIC MEDICINE, 2019, 7 (12):

[7] Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients [J]. JOURNAL OF HUMAN GENETICS, 2019, 64 (12) : 1173 - 1186

[8] The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome[J] . van der Sluijs Pleuntje J,Jansen Sandra,Vergano Samantha A,Adachi-Fukuda Miho,Alanay Yasemin,AlKindy Adila,Baban Anwar,Bayat Allan,Beck-W?dl Stefanie,Berry Katherine,Bijlsma Emilia K,Bok Levinus A,Brouwer Alwin F J,van der Burgt Ineke,Campeau Philippe M,Canham Natalie,Chrzanowska Krystyna,Chu Yoyo W Y,Chung Brain H Y,Dahan Karin,De Rademaeker Marjan,Destree Anne,Dudding-Byth Tracy,Earl Ra

[9] Mutational Landscapes and Phenotypic Spectrum of SWI/SNF-Related Intellectual Disability Disorders[J] . Frontiers in Molecular Neuroscience . 2018

[10] First data from a parent-reported registry of 81 individuals with Coffin-Siris syndrome: Natural history and management recommendations[J] . Mannino Elizabeth A,Miyawaki Hanae,Santen Gijs,Schrier Vergano Samantha A.American journal of medical genetics. Part A . 2018 (11)

[1] Coffin-Siris综合征1例报告 [J]. 临床儿科杂志, 2020, 38 (09) : 704 - 706

[2] 新生儿SMARCB1突变型Coffin-Siris综合征伴先天性膈膨升1例 [J]. 广东医学, 2020, 41 (09) : 971 - 973

[3] 一例Coffin-Siris综合征患儿的临床表型及遗传学分析 [J]. 中华医学遗传学杂志, 2018, 35 (05) : 707 - 710

[4] Coffin-Siris Syndrome-1: Report of five cases from Asian populations with truncating mutations in the ARID1B gene[J] . Sophie Lian,Teck Wah Ting,Angeline H.M. Lai,Ee-Shien Tan,Heming Wei,Breana Cham,Ene-Choo Tan.Journal of the Neurological Sciences . 2020 (prep)

[5] First Korean Case of Coffin-Siris Syndrome with a Novel Frameshift ARID1B Mutation [J]. ANNALS OF CLINICAL AND LABORATORY SCIENCE, 2020, 50 (01): : 140 - 145

[6] De novo splice site variant of ARID1B associated with pathogenesis of Coffin-Siris syndrome [J]. MOLECULAR GENETICS & GENOMIC MEDICINE, 2019, 7 (12):

[7] Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients [J]. JOURNAL OF HUMAN GENETICS, 2019, 64 (12) : 1173 - 1186

[8] The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome[J] . van der Sluijs Pleuntje J,Jansen Sandra,Vergano Samantha A,Adachi-Fukuda Miho,Alanay Yasemin,AlKindy Adila,Baban Anwar,Bayat Allan,Beck-W?dl Stefanie,Berry Katherine,Bijlsma Emilia K,Bok Levinus A,Brouwer Alwin F J,van der Burgt Ineke,Campeau Philippe M,Canham Natalie,Chrzanowska Krystyna,Chu Yoyo W Y,Chung Brain H Y,Dahan Karin,De Rademaeker Marjan,Destree Anne,Dudding-Byth Tracy,Earl Ra

[9] Mutational Landscapes and Phenotypic Spectrum of SWI/SNF-Related Intellectual Disability Disorders[J] . Frontiers in Molecular Neuroscience . 2018

[10] First data from a parent-reported registry of 81 individuals with Coffin-Siris syndrome: Natural history and management recommendations[J] . Mannino Elizabeth A,Miyawaki Hanae,Santen Gijs,Schrier Vergano Samantha A.American journal of medical genetics. Part A . 2018 (11)