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Ataxia with Oculomotor Apraxia Type 4 with PNKP Common “Portuguese” and Novel Mutations in Two Belarusian Families
Ataxia with oculomotor apraxia type 4 (AOA4) is a rare autosomal recessive, PNKP -related disorder delineated in 2015 in Portugal. We diagnosed AOA4 by next generation sequencing (NGS) followed by Sanger's sequencing in three boys from two unrelated Belarusian families. In both families, one of...
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| Publicado no: | J Pediatr Genet |
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| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Georg Thieme Verlag KG
2019
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| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6499616/ https://ncbi.nlm.nih.gov/pubmed/31061747 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0039-1684008 |
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