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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Detalhes bibliográficos
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Hindawi Publishing Corporation 2012
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3517822/
https://ncbi.nlm.nih.gov/pubmed/23243526
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2012/949507
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