Mowat-Wilson'S Syndrome: A Case Report
Mowat-Wilson syndrome (MWS) is a very infrequent congenital polimalformative disorder, caused by mutations, deletions or insertions of the ZEB2 gene, which codify for a protein that is involved in the migration of the neural crest cells and the development of middle line structures. The inheritance...
- Autores:
-
Villota Delgado, Vania Alexandra
Gómez C, Juan Fernando
Saldarriaga G, Wilmar
- Tipo de recurso:
- Article of investigation
- Fecha de publicación:
- 2012
- Institución:
- Universidad ICESI
- Repositorio:
- Repositorio ICESI
- Idioma:
- eng
- OAI Identifier:
- oai:repository.icesi.edu.co:10906/81230
- Acceso en línea:
- http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0370-41062012000400008&lng=en&nrm=iso&tlng=en
http://hdl.handle.net/10906/81230
http://dx.doi.org/10.4067/S0370-41062012000400008
- Palabra clave:
- Ciencias socio biomédicas
Defectos congénitos
Epilepsia
Neurología pediátrica
Cardiopatías congénitas
Medical sciences
Enfermedad de Hirschsprung
Retardo mental
- Rights
- openAccess
- License
- https://creativecommons.org/licenses/by-nc-nd/4.0/
| Summary: | Mowat-Wilson syndrome (MWS) is a very infrequent congenital polimalformative disorder, caused by mutations, deletions or insertions of the ZEB2 gene, which codify for a protein that is involved in the migration of the neural crest cells and the development of middle line structures. The inheritance pattern is autosomal dominant, haplo-insufficient. |
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