OTX2 duplication is implicated in hemifacial microsomia.
Hemifacial microsomia (HFM) is the second most common facial anomaly after cleft lip and palate. The phenotype is highly variable and most cases are sporadic. We investigated the disorder in a large pedigree with five affected individuals spanning eight meioses. Whole-exome sequencing results indica...
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| Main Authors: | , , , , , , , , , |
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| Format: | article |
| Language: | EN |
| Published: |
Public Library of Science (PLoS)
2014
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| Subjects: | |
| Online Access: | https://doaj.org/article/3962f316f8ce4b5fb35f0fb513947cd5 |
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