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Congenital Cataracts and Gut Dysmotility in a DYNC1H1 Dyneinopathy Patient
Whole exome sequencing continues to end the diagnostic odyssey for a number of patients and expands our knowledge of phenotypes associated with gene mutations. We describe an 11-year-old female patient with a constellation of symptoms including congenital cataracts, gut dysmotility, sensory neuropat...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
MDPI
2016
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5083924/ https://www.ncbi.nlm.nih.gov/pubmed/27754416 http://dx.doi.org/10.3390/genes7100085 |