Expanding the phenotype of children presenting with hypoventilation with biallelic TBCK pathogenic variants and literature review
| Autor: | Sabanathan, Saraswathy, Gulhane, Deepti, Mankad, Kshitij, Davison, James, Ong, Min Tsui, Phadke, Rahul, Robinson, Robert, Spiller, Michael, Wakeling, Emma, Ramdas, Sithara, Brady, Angela F, Balasubramanian, Meena, Munot, Pinki |
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| Zdroj: | In Neuromuscular Disorders January 2023 33(1):50-57 |
| Databáze: | ScienceDirect |
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