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Autor:
Y A, Zarate, L, Kalsner, A, Basinger, J R, Jones, C, Li, M, Szybowska, Z L, Xu, S, Vergano, A R, Caffrey, C V, Gonzalez, H, Dubbs, E, Zackai, F, Millan, A, Telegrafi, B, Baskin, R, Person, J L, Fish, D B, Everman
Publikováno v:
Clinical genetics. 92(4)
SATB2-associated syndrome (SAS) is a multisystemic disorder caused by alterations of the SATB2 gene. We describe the phenotype and genotype of 12 individuals with 10 unique (de novo in 11 of 11 tested) pathogenic variants (1 splice site, 5 frameshift
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::853d7cf5e0aba0176af24c01d422ecf9
https://pubmed.ncbi.nlm.nih.gov/28139846
https://pubmed.ncbi.nlm.nih.gov/28139846
