Ann Child Neurol.
2022 Jan;30(1):31-34. 10.26815/acn.2021.00486.
Distinctive Severe Ocular Abnormalities and Epilepsy Accompanied by a Novel ZEB2 Mutation in a Child with Mowat-Wilson Syndrome
- Affiliations
-
- 1Department of Pediatrics, Soonchunhyang University Bucheon Hospital, Soonchunhyang University College of Medicine, Bucheon, Korea
- 2Department of Pediatrics, Inje University Haeundae Paik Hospital, Inje University College of Medicine, Busan, Korea
- 3Department of Ophthalmology, Severance Hospital, Yonsei University College of Medicine, Seoul, Korea
- 4Department of Laboratory Medicine and Genetics, Soonchunhyang University Bucheon Hospital, Soonchunhyang University College of Medicine, Bucheon, Korea
- KMID: 2548668
- DOI: http://doi.org/10.26815/acn.2021.00486
- Full Text Links
-
- Actions
-
Cited
- CITED
-
- Close
- Share
-
- Similar articles
-
- A case of Mowat-Wilson syndrome with developmental delays and Hirschsprung's disease
- Periventricular nodular heterotopia in a child with a mild Mowat–Wilson phenotype caused by a novel missense mutation of ZEB2
- A Case of Microcephaly and Early-onset Nephrotic Syndrome: Galloway-Mowat Syndrome
- Galloway-Mowat Syndrome in Two Siblings
- A Case of Familial Stickler Syndrome in a Newborn with COL2A1 Gene Mutation
