Severe Macular Atrophy in an Infant With Neuromuscular Oculoauditory Syndrome
Pathogenic variants in DEAH-box helicase 16 (DHX16) that are critical regulators of mRNA metabolism have been linked to neuromuscular oculoauditory syndrome (NMOAS), a rare disorder characterized by sensorineural hearing loss, neuromuscular deficits, and retinal abnormalities. This report covers a r...
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Détails bibliographiques
| Publié dans: | Ophthalmic surgery, lasers & imaging retina. - 2013. - (2025) vom: 07. Okt., Seite 1-4
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| Auteur principal: |
Yun, Justin S
(Auteur) |
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| Autres auteurs: |
Yamamoto, Marcus H,
Marin, Alejandro I,
Sargiotto, Carla,
Schweitzer, Daniela N,
Tsui, Irena |
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| Format: | Article en ligne
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| Langue: | English |
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| Publié: |
2025
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| Accès à la collection: | Ophthalmic surgery, lasers & imaging retina
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| Sujets: | Journal Article |
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