NMNAT1 autosomal recessive disorder: a rare cause of macular scarring.

IF 0.6 Q3 MEDICINE, GENERAL & INTERNAL BMJ Case Reports Pub Date : 2024-11-24 DOI:10.1136/bcr-2024-261677
Christopher Stewart, Jaskaran Singh Bhangu, Mahmoud Husseiny Awad, Gwyn Samuel Williams
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NMNAT1 常染色体隐性遗传病:黄斑瘢痕的罕见病因。
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来源期刊
BMJ Case Reports
BMJ Case Reports Medicine-Medicine (all)
CiteScore
1.40
自引率
0.00%
发文量
1588
期刊介绍: BMJ Case Reports is an important educational resource offering a high volume of cases in all disciplines so that healthcare professionals, researchers and others can easily find clinically important information on common and rare conditions. All articles are peer reviewed and copy edited before publication. BMJ Case Reports is not an edition or supplement of the BMJ.
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Anaphylaxis following a slow loris bite occurring in an area of forest fragmentation. Bilateral autologous penetrating keratoplasty following periorbital necrotising fasciitis. Choroidal melanoma with classic ophthalmoscopic and radiologic findings. NMNAT1 autosomal recessive disorder: a rare cause of macular scarring. Paradoxical cerebral embolism caused by patent foramen ovale in a patient with multiple endocrine neoplasia type 1 and severe primary hyperparathyroidism.
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