14q32.11 microdeletion including CALM1, TTC7B, PSMC1, and RPS6KA5:A new potential cause of developmental and language delay in three unrelated patients

Autor: Eno, Celeste C., Graakjaer, Jesper, Svaneby, Dea, Nizon, Mathilde, Kianmahd, Jessica, Signer, Rebecca, Martinez-Agosto, Julian A., Quintero-Rivera, Fabiola

Publikováno v: Eno, C C, Graakjaer, J, Svaneby, D, Nizon, M, Kianmahd, J, Signer, R, Martinez-Agosto, J A & Quintero-Rivera, F 2021, ' 14q32.11 microdeletion including CALM1, TTC7B, PSMC1, and RPS6KA5 : A new potential cause of developmental and language delay in three unrelated patients ', American Journal of Medical Genetics, Part A, vol. 185, no. 5, pp. 1519-1524 . https://doi.org/10.1002/ajmg.a.62117

Three unrelated patients with similar microdeletions of chromosome 14q32.11 with shared phenotypes including language and developmental delay, and four overlapping genes -CALM1, TTC7B, PSMC1, and RPS6KA5 have been presented. All four genes are expres

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https://findresearcher.sdu.dk:8443/ws/files/181861926/ajmg.a.62117.pdf