논문KCI 등재
A Novel De Novo Heterozygous ARID1A Missense Variant Cluster in cis c.[5954C>G;6314C>T;6334C>T;6843G>C] causes a Coffin–Siris Syndrome
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참고문헌
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참고문헌 (10)
- Tsurusaki Y, "Mutations affecting components of the SWI", SNF complex cause Coffin-Siris syndrome, 2012, pp.44, 376~378
- Sekiguchi F, "Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients", J Hum Genet, 64, pp.1173~1186 (2019)
- Santen GW, "Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients", Hum Mutat, 34, pp.1519~1528 (2013)
- Martínez F, "High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing", J Med Genet, 54, pp.87~92 (2017)
- Dillon OJ, "Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders", Eur J Hum Genet, 26, pp.644~651 (2018)
- Wieczorek D, "A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling", Hum Mol Genet, 22, pp.5121~5135 (2013)
- Farwell KD, "Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions", Genet Med, 17, pp.578~586 (2015)
- Kwak KJ, "Korean-Wechsler Intelligence Scale for Children", pp.11~13 (2011), Hakjisa
- Richards S, "Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology", Genet Med, 17, pp.405~424 (2015)
- Karbassi I, "A standardized DNA variant scoring system for pathogenicity assessments in mendelian disorders", Hum Mutat, 37, pp.127~134 (2016)
관련 논문AI추천
Coffin-Siris Syndrome: Genotype-Phenotype Clustering and Novel Variants김만진, 김보람, 박성섭, 성문우, 신호섭, 이지수, 장주원, 조성임, 채승원대한진단검사의학회 · Laboratory Medicine Online2023 · 제13권 제2호Identification of Two Novel ANKRD11 Mutations: Highlighting Incomplete Penetrance in KBG SyndromeAfif Lamia, Amllal Nada, Chiguer Amal, Elalaoui Siham Chafai, Izgua Amal Thimou, Lyahyai Jaber, Sefiani Abdelaziz, Zerkaoui Maria대한진단검사의학회 · Annals of Laboratory Medicine2024 · 제44권 제1호Identification of SUZ12 Haploinsufficiency due to a 1.4-Mb Deletion at 17q11.2 in a Child With Overgrowth and Intellectual Disability Syndrome장미애, Park Soyoung대한진단검사의학회 · Annals of Laboratory Medicine2023 · 제43권 제3호PITX2-related Axenfeld-Rieger Syndrome with a Novel Pathogenic Variant (c.475_476delCT)기창석, 기창원, 박종은, 이은정대한진단검사의학회 · Annals of Laboratory Medicine2018 · 제38권 제3호Novel Pathogenic Missense NF1-Variant Associated With Cognitive ImpairmentAparna Somaraj, Ashwin Prasad, Faheem Arshad, Gautham Arunachal Udupi, Subasree Ramakrishnan, Suvarna Alladi대한치매학회 · Dementia and Neurocognitive Disorders(대한치매학회지)2024 · 제23권 제1호Novel PTCH1 Gene Mutation in a Patient with Gorlin‒Goltz SyndromeAyse Serap Karadag, Emin Ozlu, Gozde Yesil, Ibrahim Akalın, Ilkin Zindancı, Necmettin Akdeniz, Sarenur Yılmaz, Seyma Ozkanlı, Tugba Kevser Uzuncakmak대한피부과학회 · Annals of Dermatology2019 · 제31권 제1호
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