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Identification of a novel mutation in a Chinese family with Nance-Horan syndrome by whole exome sequencing
Objective: Nance-Horan syndrome (NHS) is a rare X-linked disorder characterized by congenital nuclear cataracts, dental anomalies, and craniofacial dysmorphisms. Mental retardation was present in about 30% of the reported cases. The purpose of this study was to investigate the genetic and clinical f...
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| Huvudupphovsmän: | , , , , , , , , , , |
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| Materialtyp: | Artigo |
| Språk: | Inglês |
| Publicerad: |
Zhejiang University Press
2014
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| Ämnen: | |
| Länkar: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4129093/ https://ncbi.nlm.nih.gov/pubmed/25091991 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1631/jzus.B1300321 |
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