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De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome
PEHO syndrome (OMIM no. 260565) is characterized by myoclonic jerking and infantile spasms, profound psychomotor retardation with the absence of motor milestones and speech, absence or early loss of visual fixation with atrophy of optic discs by 2 years of age and progressive brain atrophy on neuroi...
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| 發表在: | Eur J Hum Genet |
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| Main Authors: | , , , , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
Nature Publishing Group
2016
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4867456/ https://ncbi.nlm.nih.gov/pubmed/26486474 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2015.217 |
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