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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Podrobná bibliografie
Vydáno v:Neuroophthalmology
Hlavní autoři: Baba, Shimpei, Takeshita, Eri, Yamazaki, Hiroko, Tarashima, Mikako, Sasaki, Masayuki
Médium: Artigo
Jazyk:Inglês
Vydáno: Taylor & Francis 2016
Témata:
Case Reports
On-line přístup: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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