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Contiguous mutation syndrome in the era of high-throughput sequencing
We investigated two siblings, born to consanguineous parents, with neurological features reminiscent of adaptor protein complex 4 (AP4) deficiency, an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity, severe intellectual...
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| Publicado no: | Mol Genet Genomic Med |
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| Main Authors: | , , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BlackWell Publishing Ltd
2015
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4444163/ https://ncbi.nlm.nih.gov/pubmed/26029708 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.134 |
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