Burden of Rare Copy Number Variants in Microcephaly: A Brazilian Cohort of 185 Microcephalic Patients and Review of the Literature

Author:

Tolezano Giovanna Cantini,Bastos Giovanna Civitate,da Costa Silvia Souza,Freire Bruna Lucheze,Homma Thais Kataoka,Honjo Rachel Sayuri,Yamamoto Guilherme Lopes,Passos-Bueno Maria Rita,Koiffmann Celia Priszkulnik,Kim Chong Ae,Vianna-Morgante Angela Maria,de Lima Jorge Alexander Augusto,Bertola Débora Romeo,Rosenberg Carla,Krepischi Ana Cristina VictorinoORCID

Funder

Fundação de Amparo à Pesquisa do Estado de São Paulo

Conselho Nacional de Desenvolvimento Científico e Tecnológico

Publisher

Springer Science and Business Media LLC

Subject

Developmental and Educational Psychology

Reference128 articles.

1. Abou Jamra, R., Philippe, O., Raas-Rothschild, A., Eck, S. H., Graf, E., Buchert, R., Borck, G., Ekici, A., Brockschmidt, F. F., Nöthen, M. M., Munnich, A., Strom, T. M., Reis, A., & Colleaus, L. (2011). Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature. The American Journal of Human Genetics, 88(6), 788–795. https://doi.org/10.1016/j.ajhg.2011.04.019

2. Abuelo, D. (2007). Microcephaly syndromes. Seminars in Pediatric Neurology, 14, 118–127. https://doi.org/10.1016/j.spen.2007.07.003

3. Akcakaya, N. H., Capan, Ö. Y., Schulz, H., Sander, T., Caglayan, S. H., & Yapıcı, Z. (2017). De novo 8p23. 1 deletion in a patient with absence epilepsy. Epileptic Disorders, 19(2), 217–221. https://doi.org/10.1684/epd.2017.0906

4. Almuriekhi, M., Shintani, T., Fahiminiya, S., Fujikawa, A., Kuboyama, K., Takeuchi, Y., Nawaz, Z., Nadaf, J., Kamel, H., Kitam, A. K., Samiha, Z., Mahmoud, L., Ben-Omran, T., Majewski, K., & Noda, M. (2015). Loss-of-function mutation in APC2 causes Sotos syndrome features. Cell Reports, 10(9), 1585–1598. https://doi.org/10.1016/j.celrep.2015.02.011

5. Asadollahi, R., Oneda, B., Joset, P., Azzarello-Burri, S., Bartholdi, D., Steindl, K., Vincent, M., Cobilanschi, J., Sticht, H., & Baldinger, R. (2014). The clinical significance of small copy number variants in neurodevelopmental disorders. Journal of Medical Genetics, 51(10), 677–688. https://doi.org/10.1136/jmedgenet-2014-102588

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