Abstract | BACKGROUND: CASE PRESENTATION: CONCLUSIONS: Whole exome sequencing identified two rare variants in KARS1 gene. Our report expands the allelic and clinical features of tRNA synthase disorders. Moreover, with our report we confirm the usefulness of WES as first tier diagnostic method in infants with complex multisystem phenotypes.
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Authors | Francesca Peluso, Viviana Palazzo, Giuseppe Indolfi, Francesco Mari, Roberta Pasqualetti, Elena Procopio, Claudia Nesti, Renzo Guerrini, Filippo Santorelli, Sabrina Giglio |
Journal | BMC medical genomics
(BMC Med Genomics)
Vol. 14
Issue 1
Pg. 25
(01 21 2021)
ISSN: 1755-8794 [Electronic] England |
PMID | 33478492
(Publication Type: Journal Article)
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Chemical References |
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Topics |
- Child, Preschool
- Female
- Humans
- Infant
- Lysine-tRNA Ligase
- Phenotype
- Exome Sequencing
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