Orthopaedic interventions in occipital horn syndrome: a rare case of mutation in ATP7A gene
Abstract Background Occipital horn syndrome is a rare, X-linked recessive, connective tissue disorder caused by abnormal copper transporter proteins coded by the ATP7A gene. 32 cases have been reported worldwide to date. Clinically, patients typically present with inguinal hernia, exostosis, cutis l...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
SpringerOpen
2022-02-01
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| Series: | Egyptian Journal of Medical Human Genetics |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s43042-022-00235-7 |