The American Journal of Human Genetics
Volume 100, Issue 4, 6 April 2017, Pages 592-604
ArticleMutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies
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Keywords
CWC27
spliceosome
retinal degeneration
brachydachtyly
craniofacial defects
neurological defects
short stature
syndrome
CRISPR-Cas9
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© 2017 American Society of Human Genetics.