Allelic and dosage effects of NHS in X-linked cataract and Nance–Horan syndrome: a family study and literature review

Nance–Horan syndrome (NHS) is a rare X-linked dominant disorder caused by mutation in the NHS gene on chromosome Xp22.13. (OMIM 302350). Classic NHS manifested in males is characterized by congenital cataracts, dental anomalies, dysmorphic facial features and occasionally intellectual disability. Fe...

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Detalles Bibliográficos
Autores principales: Miller, Caroline, Gertsen, Benjamin G., Schroeder, Audrey L., Fong, Chin-To, Iqbal, M. Anwar, Zhang, Bin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8496034/
https://www.ncbi.nlm.nih.gov/pubmed/34620209
http://dx.doi.org/10.1186/s13039-021-00566-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8496034/
https://www.ncbi.nlm.nih.gov/pubmed/34620209
http://dx.doi.org/10.1186/s13039-021-00566-x

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