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Disruption of the Photoreceptor Inner Segment–Outer Segment Junction in a 6-Year-Old Girl with Joubert Syndrome
Joubert syndrome (JS) is a spectrum of genetic disorders characterised by cerebellar and brainstem malformation called “molar tooth sign”, resulting in hypotonia, developmental delay, and intellectual disability. Here we describe a young female JS patient with “salt-and-pepper” fundus and inner segm...
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| Publicado no: | Neuroophthalmology |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Taylor & Francis
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5278790/ https://ncbi.nlm.nih.gov/pubmed/28228833 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1080/01658107.2016.1236391 |
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