A novel SLC5A6 homozygous variant in a family with multivitamin-dependent neurometabolic disorder: Phenotype expansion and long-term follow-up
| Title: | A novel SLC5A6 homozygous variant in a family with multivitamin-dependent neurometabolic disorder: Phenotype expansion and long-term follow-up |
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| Authors: | Montomoli, Martino, Vetro, Annalisa, Tubili, Flavia, Donati, Maria Alice, Daniotti, Marta, Pochiero, Francesca, Rivieri, Francesca, Girlando, Salvatore, Guerrini, Renzo |
| Source: | In European Journal of Medical Genetics August 2023 66(8) |
| Database: | ScienceDirect |
| ISSN: | 17697212 |
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| DOI: | 10.1016/j.ejmg.2023.104808 |
| Published in: | European Journal of Medical Genetics |
| Language: | English |