Article

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

2023-01-03

Abstract excerpt

<h4>Background: </h4> Nance–Horan syndrome (NHS; MIM 302350) 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 two symptomatic females from three unrelated NHS families. The clinical diagnosis in patient 1 (P1) was confirmed by targeted Sanger sequencing. Patie...

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Literature Corpus work: 8f01d90e-f179-5c48-a4ae-881a18a09a54
DOI: 10.21203/rs.3.rs-2397002/v1

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