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Novel de novo mutation in ZBTB20 in a Chinese Primrose syndrome family and a review of the literature.
Li J, Zhang C, Tian X, Zhou B, Chen X, Wang Y, Hao S, Hui L, Meng Z. Li J, et al. Mol Genet Genomic Med. 2024 Jan;12(1):e2304. doi: 10.1002/mgg3.2304. Epub 2023 Dec 12. Mol Genet Genomic Med. 2024. PMID: 38087819 Free PMC article. Review.
CONCLUSION: However, there are no formal clinical guidelines for the management of this disease, and research on treatment and prognosis remains a challenge and focus in future....
CONCLUSION: However, there are no formal clinical guidelines for the management of this disease, and research on treatment and prognosis …
Novel de novo ZBTB20 mutations in three cases with Primrose syndrome and constant corpus callosum anomalies.
Alby C, Boutaud L, Bessières B, Serre V, Rio M, Cormier-Daire V, de Oliveira J, Ichkou A, Mouthon L, Gordon CT, Bonnière M, Mechler C, Nitschke P, Bole C, Lyonnet S, Bahi-Buisson N, Boddaert N, Colleaux L, Roth P, Ville Y, Vekemans M, Encha-Razavi F, Attié-Bitach T, Thomas S. Alby C, et al. Am J Med Genet A. 2018 May;176(5):1091-1098. doi: 10.1002/ajmg.a.38684. Am J Med Genet A. 2018. PMID: 29681083
CC anomalies (CCAs) are the most frequent brain anomalies leading to variable neurodevelopmental outcomes making genetic counseling difficult in the absence of a known etiology that might inform the prognosis. Here, we used whole exome sequencing, and a targeted capture pa …
CC anomalies (CCAs) are the most frequent brain anomalies leading to variable neurodevelopmental outcomes making genetic counseling difficul …