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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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Библиографические подробности
Опубликовано в: :BMC Med Genet
Главные авторы: Ling, Chao, Sui, Ruifang, Yao, Fengxia, Wu, Zhihong, Zhang, Xue, Zhang, Shuyang
Формат: Artigo
Язык:Inglês
Опубликовано: BioMed Central 2019
Предметы:
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC6332535/
https://ncbi.nlm.nih.gov/pubmed/30642278
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-018-0725-3
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