An Atypical Presentation of a Male with Oral-Facial-Digital Syndrome Type 1 Related Ciliopathy
Background. Oral-facial-digital syndrome type 1 (OFD1) is a rare condition with X-linked dominant inheritance caused by mutations in the Cxorf5 (OFD1) gene. This gene encodes the OFD1 protein located within centrosomes and basal bodies of primary cilia. Approximately 15–50% of patients with OFD1 pro...
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| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2016-01-01
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| Series: | Case Reports in Nephrology |
| Online Access: | http://dx.doi.org/10.1155/2016/3181676 |
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