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...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2016-10-01
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| Series: | Genes |
| Subjects: | |
| Online Access: | http://www.mdpi.com/2073-4425/7/10/85 |