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Distinctive Severe Ocular Abnormalities and Epilepsy Accompanied by a Novel ZEB2 Mutation in a Child with Mowat-Wilson Syndrome |
Soyoung Park, Yun Jung Hur, Jin Sook Yoon, Mi-Ae Jang |
Ann Child Neurol. 2022;30(1):31-34. Published online August 27, 2021 DOI: https://doi.org/10.26815/acn.2021.00486 |
Distinctive Severe Ocular Abnormalities and Epilepsy Accompanied by a Novel ZEB2 Mutation in a Child with Mowat-Wilson Syndrome ZEB2 Gene Mutation and Duplication of 22q11.23 in Mowat-Wilson Syndrome First Case Report of Developmental Bilateral Cataract with a Novel Mutation in the ZEB2 Gene Observed in Mowat-Wilson Syndrome ZEB2, the Mowat-Wilson Syndrome Transcription Factor: Confirmations, Novel Functions, and Continuing Surprises Novel Zeb2 gene variation in the Mowat Wilson syndrome (MWS) A Novel Partial Duplication of ZEB2 and Review of ZEB2 Involvement in Mowat-Wilson Syndrome Recurrence of Mowat-Wilson syndrome in siblings with a novel mutation in theZEB2gene Three Novel De Novo ZEB2 Variants Identified in Three Unrelated Chinese Patients With Mowat-Wilson Syndrome and A Systematic Review ZFHX1B mutations in patients with Mowat-Wilson syndrome Periventricular nodular heterotopia in a child with a mild Mowat–Wilson phenotype caused by a novel missense mutation of ZEB2 |