1. Bestetti, Ilaria, Crippa, Milena, Sironi, Alessandra, Low, Karen, Finelli, Palma. 2022. Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome. In International journal of molecular sciences, 23, . doi:10.3390/ijms23115912. https://pubmed.ncbi.nlm.nih.gov/35682590/
2. . 2017. Prevalence and architecture of de novo mutations in developmental disorders. In Nature, 542, 433-438. doi:10.1038/nature21062. https://pubmed.ncbi.nlm.nih.gov/28135719/
3. Wang, Dayan, Lai, Panjian, Li, Xiaobing. . [Analysis of ANKRD11 gene variant in a family affected with KBG syndrome]. In Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 37, 1029-1031. doi:10.3760/cma.j.cn511374-20190907-00462. https://pubmed.ncbi.nlm.nih.gov/32820523/
4. He, Dongye, Zhang, Mei, Li, Yanying, Liu, Fupeng, Ban, Bo. 2024. Insights into the ANKRD11 variants and short-stature phenotype through literature review and ClinVar database search. In Orphanet journal of rare diseases, 19, 292. doi:10.1186/s13023-024-03301-y. https://pubmed.ncbi.nlm.nih.gov/39135054/
5. Bianchi, Pier Marco, Bianchi, Alessandra, Digilio, Maria Cristina, Sitzia, Emanuela, De Vincentiis, Giovanni Carlo. 2017. Audiological findings in a de novo mutation of ANKRD11 gene in KBG syndrome: Report of a case and review of the literature. In International journal of pediatric otorhinolaryngology, 103, 109-112. doi:10.1016/j.ijporl.2017.10.017. https://pubmed.ncbi.nlm.nih.gov/29224748/
6. Babunovska, Marija, Cepreganova Cangovska, Tatjana, Kuzmanovski, Igor, Plaseska-Karanfilska, Dijana, Cvetkovska, Emilija. 2024. Novel Variant ANKRD11 Gene Mutation Associated With Drug-Resistant Epilepsy in KBG Syndrome Phenotype. In Pediatric neurology, 155, 51-54. doi:10.1016/j.pediatrneurol.2024.03.011. https://pubmed.ncbi.nlm.nih.gov/38593730/
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