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أضاف وظيفة جديدة Health

2026-07-23 10:04:23 -

Oculodentodigital Syndrome Market: How Is Connexin 43 Modulation and Multidisciplinary Craniofacial Care Reshaping This Rare Gap Junction Disorder?

Oculodentodigital syndrome — the rare autosomal dominant disorder caused by GJA1 gene mutations encoding connexin 43, characterized by microphthalmia, microcornea, syndactyly, enamel hypoplasia, distinctive facies with thin nose and hypoplastic alae nasi, and variable neurodevelopmental features including spastic paraplegia and white matter abnormalities — creating the most...

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