Mowat-Wilson Syndrome: The First Clinical and Molecular Report of an Indonesian Patient

Mowat-Wilson syndrome (OMIM 235730) is a genetic condition characterized by moderate-to-severe intellectual disability, a recognizable facial phenotype, and multiple congenital anomalies. The striking facial phenotype in addition to other features such as severely impaired speech, hypotonia, microce...

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Detalles Bibliográficos
Autores principales: Mundhofir, Farmaditya E. P., Yntema, Helger G., van der Burgt, Ineke, Hamel, Ben C. J., Faradz, Sultana M. H., van Bon, Bregje W. M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2012
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3517822/
https://www.ncbi.nlm.nih.gov/pubmed/23243526
http://dx.doi.org/10.1155/2012/949507

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3517822/
https://www.ncbi.nlm.nih.gov/pubmed/23243526
http://dx.doi.org/10.1155/2012/949507

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