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Electroclinical pattern in MECP2 duplication syndrome: Eight new reported cases and review of literature

11 May 2012

Abstract excerpt

PURPOSE: Duplications encompassing the MECP2 gene on the Xq28 region have been described in male patients with moderate to severe mental retardation, absent speech, neonatal hypotonia, progressive spasticity and/or ataxia, recurrent severe respiratory infections, gastrointestinal problems, mild facial dysmorphisms (midface hypoplasia, depressed nasal bridge, large ears) and epilepsy. Epilepsy can occur in >50% of...

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Congenital Ear and Nasal Anomalies
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PMID: 22578097
DOI: 10.1111/j.1528-1167.2012.03501.x

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Electroclinical pattern in MECP2 duplication syndrome: Eight new reported cases and review of literaturePMID 22578097Read ↗

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