Major brain malformations: corpus callosum dysgenesis, agenesis of septum pellucidum and polymicrogyria in patients with BCORL1-related disorders
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
https://www.nature.com/articles/s10038-021-00971-5.pdf
Reference42 articles.
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2. Shukla A, Girisha KM, Somashekar PH, Nampoothiri S, McClellan R, Vernon HJ. Variants in the transcriptional corepressor BCORL1 are associated with an X-linked disorder of intellectual disability, dysmorphic features, and behavioral abnormalities. Am J Med Genet A. 2019;179:870–4.
3. Jiang YH, Yuen RK, Jin X, Wang M, Chen N, Wu X, et al. Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome qsequencing. Am J Hum Genet. 2013;93:249–63.
4. Muthusamy B, Bellad A, Girimaji SC, Pandey A. Shukla-Vernon syndrome: a second family with a novel variant in the BCORL1 gene. Genes. 2021;12:452.
5. Scheffer IE, Berkovic S, Capovilla G, Connolly MB, French J, Guilhoto L, et al. ILAE classification of the epilepsies: position paper of the ILAE commission for classification and terminology. Epilepsia. 2017;58:512–21.
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