KBG syndrome
Author:
Publisher
Springer Science and Business Media LLC
Subject
Pharmacology (medical),Genetics(clinical),General Medicine
Link
http://link.springer.com/content/pdf/10.1186/s13023-017-0736-8.pdf
Reference27 articles.
1. Skjei KL, Martin MM, Slavotinek AM. KBG syndrome: report of twins, neurological characteristics, and delineation of diagnostic criteria. Am J Med Genet. 2007;143A:292–300.
2. Goldenberg A, Riccardi F, Tessier A, Pfundt R, Busa T, Cacciagli P, et al. Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11. Am J Med Genet. 2016;170A:2847–59.
3. Low K, Ashraf T, Canham N, Clayton-Smith J, Deshpande C, Donaldson A, et al. Clinical and genetic aspects of KBG syndrome. Am J Med Genet. 2016;170A:2835–46.
4. Sirmaci A, Spiliopoulos M, Brancati F, Powell E, Duman D, Duman D, et al. Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and Macrodontia. Am J Hum Genet. 2011;89:289–94.
5. Brancati F, Sarkozy A, Dallapiccola B. KBG syndrome. Orphanet J Rare Dis. 2006; https://doi.org/10.1186/1750-1172-1-50 .
Cited by 54 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Insights into the ANKRD11 variants and short-stature phenotype through literature review and ClinVar database search;Orphanet Journal of Rare Diseases;2024-08-12
2. Natural history of adults with KBG syndrome: A physician-reported experience;Genetics in Medicine;2024-08
3. Care pathways in childhood neurodevelopmental disorders: Toward greater awareness of KBG syndrome among pediatricians;Archives de Pédiatrie;2024-07
4. KBG syndrome: report and follow-up on three unrelated patients observed at different ages;2024-06-07
5. Novel Variant ANKRD11 Gene Mutation Associated With Drug-Resistant Epilepsy in KBG Syndrome Phenotype;Pediatric Neurology;2024-06
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