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

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...

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Detalles Bibliográficos
Autores principales: Guven, Yeliz, Saracoglu, Hilal Piril, Aksakal, Sermin Dicle, Kalayci, Tugba, Altunoglu, Umut, Uyguner, Zehra Oya, Eraslan, Serpil, Borklu, Esra, Kayserili, Hulya
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10204325/
https://www.ncbi.nlm.nih.gov/pubmed/37221585
http://dx.doi.org/10.1186/s12903-023-03029-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10204325/
https://www.ncbi.nlm.nih.gov/pubmed/37221585
http://dx.doi.org/10.1186/s12903-023-03029-4

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