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Nance-Horan Syndrome: characterization of dental, clinical and molecular features in three new families

23 May 2023

Abstract excerpt

BACKGROUND: Nance-Horan syndrome (NHS; MIM 302,350) is an extremely rare X-linked dominant disease characterized by ocular and dental anomalies, intellectual disability, and facial dysmorphic features. CASE PRESENTATION: We report on five affected males and three carrier females from three unrelated NHS families. In Family 1, index (P1) showing bilateral cataracts, iris heterochromia, microcornea, mild...

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PMID: 37221585
DOI: 10.1186/s12903-023-03029-4

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