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A recurrent single-exon deletion in TBCK might be under-recognized in patients with infantile hypotonia and psychomotor delay.
Dai H, Zhu W, Yuan B, Walley N, Schoch K, Jiang YH, Phillips JA, Jones MS, Liu P, Murdock DR, Burrage LC, Lee B, Rosenfeld JA, Xiao R; Undiagnosed Diseases Network. Dai H, et al. Among authors: jones ms. Hum Mutat. 2022 Dec;43(12):1816-1823. doi: 10.1002/humu.24497. Epub 2022 Nov 6. Hum Mutat. 2022. PMID: 36317458 Free PMC article.
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