Orthopaedic interventions in occipital horn syndrome: a rare case of mutation in ATP7A gene
Orthopaedic interventions in occipital horn syndrome: a rare case of mutation in ATP7A gene
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Cairo: Springer
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English
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Cairo: Springer
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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 laxa, and bladder diverticula. Orthopaedic problems often in...
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Orthopaedic interventions in occipital horn syndrome: a rare case of mutation in ATP7A gene
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TN_cdi_proquest_journals_2670525111
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2670525111
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ISSN
1110-8630
E-ISSN
2090-2441
DOI
10.1186/s43042-022-00235-7
