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Expansion of the genotypic and phenotypic spectrum of CTCF-related disorder guides clinical management: 43 new subjects and a comprehensive literature review.
Valverde de Morales HG, Wang HV, Garber K, Cheng X, Corces VG, Li H. Valverde de Morales HG, et al. Am J Med Genet A. 2023 Mar;191(3):718-729. doi: 10.1002/ajmg.a.63065. Epub 2022 Dec 1. Am J Med Genet A. 2023. PMID: 36454652 Free PMC article. Review.
Monoallelic variants of CTCF cause an autosomal dominant neurodevelopmental disorder with a wide range of features, including impacts on the brain, growth, and craniofacial development. ...The cardinal clinical features in subjects with CRD included intellectual …
Monoallelic variants of CTCF cause an autosomal dominant neurodevelopmental disorder with a wide range of features, including …
KCNT1 mutations in seizure disorders: the phenotypic spectrum and functional effects.
Lim CX, Ricos MG, Dibbens LM, Heron SE. Lim CX, et al. J Med Genet. 2016 Apr;53(4):217-25. doi: 10.1136/jmedgenet-2015-103508. Epub 2016 Jan 6. J Med Genet. 2016. PMID: 26740507 Review.
This review describes the mutational and phenotypic spectrum associated with the gene and discusses the comorbidities found in patients, which include intellectual disability and psychiatric features. The gene may also be linked with cardiac disorders. ...Mutations …
This review describes the mutational and phenotypic spectrum associated with the gene and discusses the comorbidities found in patients, whi …