Novel ocular observations in a child with Joubert syndrome type 6 due to pathogenic variant in TMEM67 gene.
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| Title: | Novel ocular observations in a child with Joubert syndrome type 6 due to pathogenic variant in TMEM67 gene. |
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| Authors: | Elsayed MEA; Oxford Eye Hospital, Oxford, UK., Ali SM; Moorfields Eye Hospitals UAE, Abu Dhabi, United Arab Emirates.; Danat Al Emarat Hospital, Abu Dhabi, United Arab Emirates.; Mohammed Bin Rashed University, Dubai, United Arab Emirates., Gardner C; Department of Diagnostic Radiology, Cleveland Clinic, Cleveland, OH, USA., Kozak I; Moorfields Eye Hospitals UAE, Abu Dhabi, United Arab Emirates.; Danat Al Emarat Hospital, Abu Dhabi, United Arab Emirates.; Mohammed Bin Rashed University, Dubai, United Arab Emirates. |
| Source: | American journal of ophthalmology case reports [Am J Ophthalmol Case Rep] 2024 Jun 14; Vol. 36, pp. 102091. Date of Electronic Publication: 2024 Jun 14 (Print Publication: 2024). |
| Publication Type: | Case Reports; Journal Article |
| Journal Info: | Publisher: Elsevier, Inc Country of Publication: United States NLM ID: 101679941 Publication Model: eCollection Cited Medium: Internet ISSN: 2451-9936 (Electronic) Linking ISSN: 24519936 NLM ISO Abbreviation: Am J Ophthalmol Case Rep Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
| ISSN: | 2451-9936 |
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| DOI: | 10.1016/j.ajoc.2024.102091 |
