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Mutation of TBCK causes a rare recessive developmental disorder
OBJECTIVE: To characterize the underlying genetic defect in a family with 3 siblings affected by a severe, yet viable, congenital disorder. METHODS: Extensive genetic and metabolic investigations were performed, and the affected children were imaged at different ages. Whole-genome genotyping and who...
Sparad:
| I publikationen: | Neurol Genet |
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| Huvudupphovsmän: | , , , , , |
| Materialtyp: | Artigo |
| Språk: | Inglês |
| Publicerad: |
Wolters Kluwer
2016
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| Ämnen: | |
| Länkar: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4881620/ https://ncbi.nlm.nih.gov/pubmed/27275012 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000076 |
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