CHKB and thanatophoric dysplasia: The defining characteristic of ALS-TD patients is the dysregulation of transcription, evident by the overexpression of pseudogenes (EGLN1P1, ENSG00000213197, HSP90AB4P, KRT8P13, NANOGP4, RPS20P22), intronic and antisense transcripts (AGPAT4-IT1, GATA2-AS1, TUB-AS1, ENSG00000205041, ENSG00000263278, ENSG00000268670, and ENSG00000273151), long non-coding RNA (LINC00176, LINC00638, LINC01347), and nonsense-mediated decay mRNA (ARHGAP19-SLIT1, C1QTNF3-AMACR, CHKB-CPT1B, and SLX1B-SULT1A4) (Fig. 6, Fig. S11; Supplementary Data 10).