@article{article, title = {{Expanding the phenotype of children presenting with hypoventilation with biallelic TBCK pathogenic variants and literature review}}, publisher = {{Elsevier BV}}, url = {{}}, year = {{2022}}, month = {{10}}, author = {{Sabanathan S and Gulhane D and Mankad K and Davison J and Ong MT and Phadke R and Robinson R and Spiller M and Wakeling E and Ramdas S and Brady AF et al}}, doi = {{10.1016/j.nmd.2022.10.004}}, journal = {{Neuromuscular Disorders}}, note = {{Accessed on 2024/12/22}}}