Whole exome sequencing identified a novel truncation mutation in the NHS gene associated with Nance-Horan syndrome

BACKGROUND: Nance-Horan syndrome (NHS) is an X-linked inheritance disorder characterized by bilateral congenital cataracts, and facial and dental dysmorphism. This disorder is caused by mutations in the NHS gene. However, NHS may be difficult to detect in individuals with subtle facial dysmorphism a...

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Detalles Bibliográficos
Autores principales: Ling, Chao, Sui, Ruifang, Yao, Fengxia, Wu, Zhihong, Zhang, Xue, Zhang, Shuyang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6332535/
https://www.ncbi.nlm.nih.gov/pubmed/30642278
http://dx.doi.org/10.1186/s12881-018-0725-3

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