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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 …
Molecular and Cellular Function of Transcription Factor 4 in Pitt-Hopkins Syndrome.
Chen HY, Bohlen JF, Maher BJ. Chen HY, et al. Dev Neurosci. 2021;43(3-4):159-167. doi: 10.1159/000516666. Epub 2021 Jun 16. Dev Neurosci. 2021. PMID: 34134113 Free PMC article. Review.
Transcription factor 4 (TCF4, also known as ITF2 or E2-2) is a type I basic helix-loop-helix transcription factor. Autosomal dominant mutations in TCF4 cause Pitt-Hopkins syndrome (PTHS), a rare syndromic form of autism spectrum disorder. ...
Transcription factor 4 (TCF4, also known as ITF2 or E2-2) is a type I basic helix-loop-helix transcription factor. Autosomal domin …
Spinocerebellar ataxia with mental retardation (SCA13).
Stevanin G, Durr A, Benammar N, Brice A. Stevanin G, et al. Cerebellum. 2005;4(1):43-6. doi: 10.1080/14734220510007923. Cerebellum. 2005. PMID: 15895558 Review.
Spinocerebellar ataxia 13 is a slowly progressive and relatively pure autosomal dominant cerebellar ataxia with childhood onset and mental deficiency. ...
Spinocerebellar ataxia 13 is a slowly progressive and relatively pure autosomal dominant cerebellar ataxia with childhood onse …
The genetics of Alzheimer's disease.
Schellenberg GD, Bird TD, Wijsman EM, Moore DK, Martin GM. Schellenberg GD, et al. Biomed Pharmacother. 1989;43(7):463-8. doi: 10.1016/0753-3322(89)90106-6. Biomed Pharmacother. 1989. PMID: 2531010 Review.
In certain rare families, the disease is most likely inherited as an autosomal dominant trait. Identification of the genes involved in AD is in progress. ...
In certain rare families, the disease is most likely inherited as an autosomal dominant trait. Identification of the genes inv …
Prenatal diagnosis of 7q11.23 microdeletion: Two cases report and literature review.
Lv X, Yang X, Li L, Yue F, Zhang H, Wang R. Lv X, et al. Medicine (Baltimore). 2023 Oct 27;102(43):e34852. doi: 10.1097/MD.0000000000034852. Medicine (Baltimore). 2023. PMID: 37904428 Free PMC article. Review.
RATIONALE: Chromosome microdeletions within 7q11.23 can result in Williams-Beuren syndrome which is a rare autosomal dominant disorder. Williams-Beuren syndrome is usually associated with developmental delay, cardiovascular anomalies, mental retardation, and charact …
RATIONALE: Chromosome microdeletions within 7q11.23 can result in Williams-Beuren syndrome which is a rare autosomal dominant …