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Genetic testing confirmed osteopetrosis with initial presentation of nystagmus

Osteopetrosis (OS) is a rare heritable disorder characterized by osteoclast dysfunction and increased bone density on radiography. Optic nerve osseous compression is the most frequent ocular complication of OS, with nystagmus, strabismus, ptosis, proptosis, and lagophthalmos occurring less frequentl...

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Bibliografiset tiedot
Päätekijät: Kai-Yen Chiu, Yu-Yang Lin, Yao-Lin Liu, Ni-Chung Lee, Tzu-Hsun Tsai
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Wolters Kluwer Medknow Publications 2023-04-01
Sarja:Taiwan Journal of Ophthalmology
Aiheet:
Linkit:https://journals.lww.com/10.4103/tjo.TJO-D-22-00152
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