2023
DOI: 10.1002/bdr2.2213
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Homozygous LOXL2 variant in individuals affected by non‐syndromic occipital encephalocele

Abstract: Background Occipital encephaloceles is a rare congenital defect in which meninges and the brain protrude out as a sac‐like structure through opening in the skull. The condition can result in neurologic complications as well as structural abnormalities of the skull. To the best of our knowledge, no genetic variant has been identified as an underlying cause of non‐syndromic occipital encephaloceles. Methods In this study, I report a family with 2 individuals having large occipital encephalocele. Clinical and rad… Show more

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